Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1).
We present follow up data on the original case of 'zebra body myopathy' published by Lake and Wilson in 1975. Pathological features in a second biopsy performed at the age of 29 years included a wide variation in fibre size, multiple split fibres, excess internal nuclei and endomysial connective tissue, rimmed vacuoles, accumulation of myofibrillar material and large 'wiped out' areas lacking stain for oxidative enzymes. The presence of nemaline rods and actin-like filaments in addition to small zebra bodies suggested ACTA1 as a candidate gene. This has been confirmed by the identification of a novel c.1043T.p.Leu348Gln mutation, which probably occurred de novo. This case illustrates that the myopathy associated with zebra bodies is part of the spectrum of myopathies associated with the ACTA1 gene. It also highlights that accumulation of actin filaments is not confined to severe neonatal ACTA1 cases and that progression of weakness can occur in congenital myopathies, as the patient is now wheelchair bound and can only stand with the aid of a walking frame.
Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, UK; Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, UK. Electronic address: c.sewry@imperial.ac.uk.
C A
CA
Sewry
Institute of Neurology, Queen Square, London, UK.
J L
JL
Holton
Norfolk and Norwich University Hospital, Norwich, UK.
D J
DJ
Dick
Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.
F
F
Muntoni
Institute of Neurology, Queen Square, London, UK.
M G
MG
Hanna
D000199:Actins / Q000235:genetics*; D000328:Adult; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D017696:Myopathies, Nemaline / Q000235:genetics* / Q000473:pathology
D000199:Actins
ACTA1; Congenital myopathy; Nemaline myopathy; Nemaline rods; Zebra bodies