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Fernando Mayordomo Selected Research

GDAP protein

12/2010Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.
9/2003Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.

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Fernando Mayordomo Research Topics

Disease

1Type 2K Charcot-Marie-Tooth disease
12/2010
1Type 4A Charcot-Marie-Tooth disease
12/2010
1type 2B Limb-girdle muscular dystrophy
08/2005
1Miyoshi myopathy
08/2005
1Muscular Diseases (Myopathy)
08/2005
1Muscular Dystrophies (Muscular Dystrophy)
08/2005
1Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease)
09/2003

Drug/Important Bio-Agent (IBA)

2GDAP proteinIBA
12/2010 - 09/2003
1DysferlinIBA
08/2005