Key result
Two related female patients with the same genetic abnormality detected by a p13E-11 probe exhibited diverse phenotypes of facioscapulohumeral muscular dystrophy.
Population
2 cases of familial facioscapulohumeral muscular dystrophy with the same genetic abnormality detected by a…
Design
Case_report
Authors
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Marked FSHD phenotypic diversity despite identical genetics cautions against uniform prognosis; leaves open modifier identification.
Case Report (n=2)
Familial facioscapulohumeral muscular dystrophy can present with significant phenotypic diversity, ranging from mild limb-girdle weakness to severe respiratory failure, despite identical genetic abnormalities.
Nakagawa et al. (2009) conducted a case report in Facioscapulohumeral muscular dystrophy (FSHD) (n=2). Genetic abnormality detected by a p13E-11 probe was evaluated on Phenotypic presentation. Two related female patients with the same genetic abnormality detected by a p13E-11 probe exhibited diverse phenotypes of facioscapulohumeral muscular dystrophy.
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