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Familial mixed congenital myopathy with rigid spine phenotype
Author(s) -
Reichmann Heinz,
Goebel Hans H.,
Schneider Christiane,
Toyka Klaus V.
Publication year - 1997
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199704)20:4<411::aid-mus2>3.0.co;2-d
Subject(s) - myopathy , desmin , phenotype , pathology , medicine , congenital myopathy , spine (molecular biology) , anatomy , biology , genetics , bioinformatics , gene , vimentin , immunohistochemistry , biopsy , muscle biopsy
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