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October 1985, Vol 42, No. 10 >
Article | October 1985

Severe Neonatal Centronuclear Myopathy With Autosomal Dominant Inheritance

Carlos F. Torres, MD; Robert C. Griggs, MD; James P. Goetz, MD
[+] Author Affiliations

Accepted for publication June 13, 1984.

Presented in part in a poster exhibit at the 31st annual meeting of the American Academy of Neurology, Chicago, April 27, 1979.

Reprint requests to Department of Pediatrics, Strong Memorial Hospital, 601 Elmwood Ave, Box 631, Rochester, NY 14642 (Dr Torres).


Arch Neurol. 1985;42(10):1011-1014. doi:10.1001/archneur.1985.04060090093023
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Comments

• We studied a boy with severe infantile centronuclear myopathy (CNM) and his mother with clinical, electrophysiological, and pathological signs of skeletal muscle, peripheral nerve, and brain-stem disorder, and we believe that her condition represents a variation of her son's disease. His brother had similar symptoms and died at 4 days of age. The occurrence of this syndrome in a symptomatic mother and two severely affected sons suggests an autosomal dominant inheritance with variable expressivity. To our knowledge, this inheritance pattern has not been previously reported in severe (fatal) infantile CNM. The different courses in the mother and her offspring may be manifestations of a single or separate abnormal gene causing alteration of muscle and nerve maturation.

REFERENCES

1 +
Spiro AJ, Shy GM, Gonatas NK:  Myotubular myopathy: Persistence of fetal muscle in an adolescent boy . Arch Neurol 1966;;14:1-14.
2 +
Barth PG, van Wijngaarden GK, Bethlem J:  X-linked myotubular myopathy with fatal neonatal asphyxia . Neurology 1975;;25:531-536.
3 +
Van Wijngaarden GK, Fleury P, Bethlem J, et al:  Familial 'myotubular' myopathy . Neurology 1969;;901-908.
4 +
Radu H, Killyen I, Ionescu V, et al:  Myotubular (centronuclear) (neuro-) myopathy: I. Clinical, genetical and morphological studies . Eur Neurol 1977;;15:285-300.
5 +
McLeod JG, Baker W De C, Lethlean AK, et al:  Centronuclear myopathy with autosomal dominant inheritance . J Neurol Sci 1972;;15:375-387.
6 +
Schochet SS Jr, Zellweger H, Ionescu V, et al:  Centronuclear myopathy: Disease entity or a syndrome? J Neurol Sci 1972;;16:215-228.
7 +
Campbell MJ, Rebeiz JJ, Walton JN:  Myotubular, centronuclear or peri-centronuclear myopathy? J Neurol Sci 1969;;8:425-443.
8 +
Harriman DGF, Haleem MA:  Centronuclear myopathy in old age . J Pathol 1972;;108:237-248.
9 +
Raju TNK, Vidyasagar D, Reyes MG, et al:  Centronuclear myopathy in the newborn period causing severe respiratory distress . Pediatrics 1977;;59:29-34.
10 +
Reitter B, Mortier W, Wille L:  Neonatal respiratory insufficiency due to centronuclear myopathy . Acta Paediatr Scand 1979;;68:773-778.
11 +
Engel WK, Gold GN, Karpati G:  Type I fiber hypertrophy and central nuclei: A rare congenital muscle abnormality with a possible experimental model . Arch Neurol 1968;;19:435-444.
12 +
Serratrice G, Pellissier JF, Faugere MC, et al:  Centronuclear myopathy: Possible central nervous system origin . Muscle Nerve 1978;;1:62-69.
13 +
Askanas V, Engel WK, Reddy NB, et al:  X-linked recessive congenital muscle fiber hypotrophy with central nuclei: Abnormalities of growth and adenylate cyclase in muscle tissue cultures . Arch Neurol 1979;;36:604-609.
14 +
Wagner AL, Buchthal F:  Motor and sensory conduction in infancy and childhood: Reappraisal . Dev Med Child Neurol 1972;;14:189-216.
15 +
Gamstorp I:  Normal conduction velocity of ulnar, median and perineal nerves in infancy, childhood and adolescence . Acta Paediatr 1963;; 146( (suppl) ):68-76.
16 +
Shahani BT: Nerve conduction studies in infants and children. Course 13 Clinical EMG. American Academy of Neurology Meeting, April-May, 1980.
17 +
Dubowitz V: Developing and diseased muscle: A histochemical study . SIMP Research Monograph No. 2, 1968;; pp. 48-50.
18 +
Colling-Saltin AS:  Enzyme histochemistry on skeletal muscle of the human foetus . J Neurol Sci 1978;;39:169-185.
19 +
Pavone L, Mollica F, Grasso A, et al:  Familial centronuclear myopathy . Acta Neurol Scand 1980;;62:33-40.
20 +
Sher JH, Rimalovski AB, Athanassiades TJ, et al:  Familial centronuclear myopathy: A clinical and pathological study . Neurology 1967;; 17:727-742.
21 +
Peyronnard JM, Charron L, Ninkovic S:  Type I fiber atrophy and internal nuclei: A form of centronuclear myopathy? Arch Neurol 1982;; 39:520-524.
22 +
Hulsmann N, Gullotta F, Okur H:  Cytopathology of an unusual case of centronuclear myopathy: Light and electron-microscopic investigations . J Neurol Sci 1981;;50:311-333.
23 +
Badurska B, Fidzianska A, Kameiniecka Z, et al:  Myotubular myopathy . J Neurol Sci 1969;; 8:563-571.
24 +
Bradley WG, Price DL, Watanabe CK:  Familial centronuclear myopathy . J Neurol Neurosurg Psychiatry 1970;;33:687-693.
25 +
Moxley RT III, Griggs RC, Marksberry WR, et al:  Metabolic implications of distal atrophy: Carbohydrate metabolism in centronuclear myopathy . J Neurol Sci 1978;;39:247-259.
26 +
Mouren P, Pornso Y, Pellissier JF, et al:  Adult onset of centronuclear myopathy with peripheral nerve involvement . J Neurol 1982;; 228:147-159.
27 +
Pongratz D, Heuser M, Mittelbach F, et al:  Die sogenannte congenitale centronucleare Myopathie—eine primare Neuropathie? Acta Neuropathol 1975;;32:9-19.

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1 +
Spiro AJ, Shy GM, Gonatas NK:  Myotubular myopathy: Persistence of fetal muscle in an adolescent boy . Arch Neurol 1966;;14:1-14.
2 +
Barth PG, van Wijngaarden GK, Bethlem J:  X-linked myotubular myopathy with fatal neonatal asphyxia . Neurology 1975;;25:531-536.
3 +
Van Wijngaarden GK, Fleury P, Bethlem J, et al:  Familial 'myotubular' myopathy . Neurology 1969;;901-908.
4 +
Radu H, Killyen I, Ionescu V, et al:  Myotubular (centronuclear) (neuro-) myopathy: I. Clinical, genetical and morphological studies . Eur Neurol 1977;;15:285-300.
5 +
McLeod JG, Baker W De C, Lethlean AK, et al:  Centronuclear myopathy with autosomal dominant inheritance . J Neurol Sci 1972;;15:375-387.
6 +
Schochet SS Jr, Zellweger H, Ionescu V, et al:  Centronuclear myopathy: Disease entity or a syndrome? J Neurol Sci 1972;;16:215-228.
7 +
Campbell MJ, Rebeiz JJ, Walton JN:  Myotubular, centronuclear or peri-centronuclear myopathy? J Neurol Sci 1969;;8:425-443.
8 +
Harriman DGF, Haleem MA:  Centronuclear myopathy in old age . J Pathol 1972;;108:237-248.
9 +
Raju TNK, Vidyasagar D, Reyes MG, et al:  Centronuclear myopathy in the newborn period causing severe respiratory distress . Pediatrics 1977;;59:29-34.
10 +
Reitter B, Mortier W, Wille L:  Neonatal respiratory insufficiency due to centronuclear myopathy . Acta Paediatr Scand 1979;;68:773-778.
11 +
Engel WK, Gold GN, Karpati G:  Type I fiber hypertrophy and central nuclei: A rare congenital muscle abnormality with a possible experimental model . Arch Neurol 1968;;19:435-444.
12 +
Serratrice G, Pellissier JF, Faugere MC, et al:  Centronuclear myopathy: Possible central nervous system origin . Muscle Nerve 1978;;1:62-69.
13 +
Askanas V, Engel WK, Reddy NB, et al:  X-linked recessive congenital muscle fiber hypotrophy with central nuclei: Abnormalities of growth and adenylate cyclase in muscle tissue cultures . Arch Neurol 1979;;36:604-609.
14 +
Wagner AL, Buchthal F:  Motor and sensory conduction in infancy and childhood: Reappraisal . Dev Med Child Neurol 1972;;14:189-216.
15 +
Gamstorp I:  Normal conduction velocity of ulnar, median and perineal nerves in infancy, childhood and adolescence . Acta Paediatr 1963;; 146( (suppl) ):68-76.
16 +
Shahani BT: Nerve conduction studies in infants and children. Course 13 Clinical EMG. American Academy of Neurology Meeting, April-May, 1980.
17 +
Dubowitz V: Developing and diseased muscle: A histochemical study . SIMP Research Monograph No. 2, 1968;; pp. 48-50.
18 +
Colling-Saltin AS:  Enzyme histochemistry on skeletal muscle of the human foetus . J Neurol Sci 1978;;39:169-185.
19 +
Pavone L, Mollica F, Grasso A, et al:  Familial centronuclear myopathy . Acta Neurol Scand 1980;;62:33-40.
20 +
Sher JH, Rimalovski AB, Athanassiades TJ, et al:  Familial centronuclear myopathy: A clinical and pathological study . Neurology 1967;; 17:727-742.
21 +
Peyronnard JM, Charron L, Ninkovic S:  Type I fiber atrophy and internal nuclei: A form of centronuclear myopathy? Arch Neurol 1982;; 39:520-524.
22 +
Hulsmann N, Gullotta F, Okur H:  Cytopathology of an unusual case of centronuclear myopathy: Light and electron-microscopic investigations . J Neurol Sci 1981;;50:311-333.
23 +
Badurska B, Fidzianska A, Kameiniecka Z, et al:  Myotubular myopathy . J Neurol Sci 1969;; 8:563-571.
24 +
Bradley WG, Price DL, Watanabe CK:  Familial centronuclear myopathy . J Neurol Neurosurg Psychiatry 1970;;33:687-693.
25 +
Moxley RT III, Griggs RC, Marksberry WR, et al:  Metabolic implications of distal atrophy: Carbohydrate metabolism in centronuclear myopathy . J Neurol Sci 1978;;39:247-259.
26 +
Mouren P, Pornso Y, Pellissier JF, et al:  Adult onset of centronuclear myopathy with peripheral nerve involvement . J Neurol 1982;; 228:147-159.
27 +
Pongratz D, Heuser M, Mittelbach F, et al:  Die sogenannte congenitale centronucleare Myopathie—eine primare Neuropathie? Acta Neuropathol 1975;;32:9-19.

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