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Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.

Two sisters and a first cousin presented with rigid spine and facio-scapulo-peroneal muscle atrophy. The patients belonged to a family with two first-cousin marriages. Electromyography, muscle and nerve biopsy showed neurogenic muscle atrophy without peripheral nerve involvement. Follow up did not s...

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Autors principals: Palmucci, L, Mongini, T, Doriguzzi, C, Maniscalco, M, Schiffer, D
Format: Artigo
Idioma:Inglês
Publicat: 1991
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1014297/
https://ncbi.nlm.nih.gov/pubmed/2010758
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