A case of Schwartz-Jampel syndrome with unusual muscle biopsy findings

A case of Schwartz-Jampel syndrome with unusual muscle biopsy findings

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 d...

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Veröffentlicht in:Annals of neurology 1978-01, Vol.3 (1), p.93-96
Hauptverfasser: Fariello, Ruggero, Meloff, Keith, Murphy, E. Gordon, Reilly, Bernard J., Armstrong, Dawna
Format: Artikel
Sprache:eng
Schlagworte:
Biopsy
Child, Preschool
Humans
Male
Muscles - pathology
Muscular Dystrophies - pathology
Myotonia - pathology
Syndrome
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Zusammenfassung: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.
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.410030115