Familial mixed congenital myopathy with rigid spine phenotype
H Reichmann, HH Goebel… - Muscle & Nerve …, 1997 - Wiley Online Library
H Reichmann, HH Goebel, C Schneider, KV Toyka
Muscle & Nerve: Official Journal of the American Association of …, 1997•Wiley Online LibraryWe describe a father and daughter with a rigid spine syndrome and proximal myopathy. The
index patient was a 42‐year‐old man, who died from respiratory failure after a lifelong,
slowly progressive proximal myopathy and a rigid spine phenotype. This was
morphologically characterized by cytoplasmic bodies, increased desmin, features of
reducing‐body myopathy, and sarcoplasmic and intranuclear tubulofilamentous inclusions.
These cases are characterized by an early onset and possibly autosomal‐dominant …
index patient was a 42‐year‐old man, who died from respiratory failure after a lifelong,
slowly progressive proximal myopathy and a rigid spine phenotype. This was
morphologically characterized by cytoplasmic bodies, increased desmin, features of
reducing‐body myopathy, and sarcoplasmic and intranuclear tubulofilamentous inclusions.
These cases are characterized by an early onset and possibly autosomal‐dominant …
Abstract
We describe a father and daughter with a rigid spine syndrome and proximal myopathy. The index patient was a 42‐year‐old man, who died from respiratory failure after a lifelong, slowly progressive proximal myopathy and a rigid spine phenotype. This was morphologically characterized by cytoplasmic bodies, increased desmin, features of reducing‐body myopathy, and sarcoplasmic and intranuclear tubulofilamentous inclusions. These cases are characterized by an early onset and possibly autosomal‐dominant inheritance, with associated complex structural hallmarks of both desmin‐related and inclusion body myopathies. Together they may be defined as a complex mixed congenital myopathy with a rigid spine phenotype. © 1997 John Wiley & Sons, Inc. Muscle Nerve, 20, 411–417, 1997
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