Two siblings with nemaline myopathy presenting with rigid spine syndrome.
Two siblings, ages 20 and 19 presented with more than 10 yr history of spinal rigidity and scoliosis. The parents were first cousins. Muscle biopsies were consistent with nemaline myopathy. This has been the first association between a familial rigid spine syndrome and nemaline myopathy.
Topaloglu
H
H
Department of Paediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
Gögüs
S
S
Yalaz
K
K
Kücükali
T
T
Serdaroglu
A
A
D000328:Adult; D003402:Creatine Kinase / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009210:Myofibrils / Q000473:pathology; D017696:Myopathies, Nemaline / Q000473:pathology*; D012600:Scoliosis / Q000473:pathology; D013122:Spinal Diseases / Q000473:pathology*
D003402:Creatine Kinase