Article
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.
BMC medical genetics - 16 Sept 2013
Schreiber Olivia, Schneiderat Peter, Kress Wolfram, Rautenstrauss Bernd, Senderek Jan, Schoser Benedikt, Walter Maggie C
Abstract excerpt
BACKGROUND: We report on a patient with genetically confirmed overlapping diagnoses of CMT1A and FSHD. This case adds to the increasing number of unique patients presenting with atypical phenotypes, particularly in FSHD. Even if a mutation in one disease gene has been found, further genetic testing might be warranted in cases with unusual clinical presentation. CASE PRESENTATION: The reported 53 years old male...
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