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A case of Schwartz‐Jampel syndrome with unusual muscle biopsy findings
Author(s) -
Fariello Ruggero,
Meloff Keith,
Murphy E. Gordon,
Reilly Bernard J.,
Armstrong Dawna
Publication year - 1978
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410030115
Subject(s) - muscle biopsy , medicine , biopsy , myotonia , pathology , myotonic dystrophy
Abstract A case of Schwartz‐Jampel syndrome with electrical, radiographic, biopsy, and pharmacological studies is presented along with a summary of the 12 other reported cases. Radiological study showed nonspecific but definite abnormalities. The muscle biopsy revealed myopathic and neurogenic features. No drug was effective in reducing our patient's stiffness.