Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch families
- 1 June 1998
- journal article
- case report
- Published by Elsevier in Neuromuscular Disorders
- Vol. 8 (5) , 296-304
- https://doi.org/10.1016/s0960-8966(98)00028-5
Abstract
No abstract availableKeywords
This publication has 27 references indexed in Scilit:
- Trifunctional enzyme deficiency: Adult presentation of a usually fatal β‐oxidation defectAnnals of Neurology, 1996
- Thiamine responsive congenital lactic acidemia and type 1 muscle fiber atrophyBrain & Development, 1995
- Idiopathic lactic acidemia with developmental delay and type 1 muscle fiber atrophy: report of two patientsBrain & Development, 1993
- Acute renal failure due to carnitine palmitoyltransferase deficiencyJournal of Internal Medicine, 1993
- Early neurological manifestations and brain anomalies in marden‐walker syndromeAmerican Journal of Medical Genetics, 1992
- Short‐chainL‐3‐hydroxyacyl‐CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathyAnnals of Neurology, 1991
- Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiencyThe Journal of Pediatrics, 1991
- Congenital fiber type disproportion myopathy in Lowe syndromePediatric Neurology, 1989
- Normalization of short‐chain acylcoenzyme a dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme a dehydrogenase—deficient myopathyAnnals of Neurology, 1989
- Congenital Fibre Type DisproportionNeuropediatrics, 1975