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A family of juvenile proximal spinal muscular atrophy with dominant inheritance.

A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in three generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involv...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Cao, A, Cainchetti, C, Calisti, L, Tangheroni, W
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1976
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013372/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/933110/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.13.2.131
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