July 1, 1989Clinical Genetics

X‐linked myotubular myopathy: clinical and pathological findings in a family

View Full Paper

Ask AI

Bookmark

Population

A five-generation family with recessively inherited X-linked myotubular myopathy, including 5 affected boys…

Design

Case_series

Authors

AOAnders OldforsHeart Failure / Cardiomyopathy MKMårten KyllermanDrottning Silvias barn- och ungdomssjukhus JWJ. WahlströmKarolinska University Hospital

Discussion

Member takes

Implication

Muscle biopsy may identify asymptomatic carriers; leaves open its role in genetic counseling for X-linked myotubular myopathy.

Structured PICO

Population

A five-generation family with recessively inherited X-linked myotubular myopathy, including 5 affected boys (2 verified by muscle biopsy) and 2 obligate carriers.

Intervention

Clinical examination, muscle biopsy, and postmortem examination

Outcome

Clinical and pathological findings (muscle weakness, asphyxia, muscle biopsy changes)

Muscle biopsy can detect pathological changes in asymptomatic carriers of X-linked myotubular myopathy, making it a valuable tool for genetic counseling.

Cite This Study

Oldfors et al. (1989) studied this question.

synapsesocial.com/papers/6a9506dd1fe04514d10f3a5d https://doi.org/10.1111/j.1399-0004.1989.tb03360.x

View Full Paper

Ask AI

Bookmark

X‐linked myotubular myopathy: clinical and pathological findings in a family

Discussion

Member takes

Implication

Structured PICO

Cite This Study

X‐linked myotubular myopathy: clinical and pathological findings in a family

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider