What question did this study set out to answer?

To investigate the inheritance pattern and clinical phenotype in a large kindred initially suspected of presenting with mild Duchenne muscular dystrophy.

August 1, 1966Journal of Neurology Neurosurgery & PsychiatryOpen Access

Unusual type of benign x-linked muscular dystrophy.

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Authors

AEAlan E H EmeryCentre Hospitalier Universitaire de Nice FDFritz E. DreifussNovartis (Switzerland)

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Implication

Pedigree investigation uncovers a distinct benign X-linked muscular dystrophy in an extended kindred, indicating a novel phenotype separate from Duchenne muscular dystrophy.

Key Points

To investigate the inheritance pattern and clinical phenotype in a large kindred initially suspected of presenting with mild Duchenne muscular dystrophy.
Field-based clinical assessment and pedigree evaluation of a large family cohort in the Appalachian Mountains.
Phenotypic characterization and lineage analysis to trace X-linked transmission across multiple generations.
Identified a benign, slowly progressive form of muscular dystrophy presenting primarily in males with an X-linked inheritance pattern.
Delineated a novel clinical entity distinct from classical Duchenne muscular dystrophy, later designated Emery–Dreifuss muscular dystrophy.

Cite This Study

Emery et al. (1966) studied this question.

synapsesocial.com/papers/69dbbb3b50e1971baba3c54c https://doi.org/10.1136/jnnp.29.4.338

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Implication

Pedigree investigation uncovers a distinct benign X-linked muscular dystrophy in an extended kindred, indicating a novel phenotype separate from Duchenne muscular dystrophy.

Unusual type of benign x-linked muscular dystrophy.

Discussion

Member takes

Implication

Key Points

Cite This Study

Unusual type of benign x-linked muscular dystrophy.

Discussion

Member takes

Implication

Key Points

Cite This Study

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