Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C
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1q21.2 Google OMIM PubMed Who named it? [Charcot-Marie-Tooth disease] Charcot-Marie-Tooth disease, axonal, type 2B1 *Gene map locus 1q21.2 CMT2B1 Charcot-Marie-Tooth disease, axonal, autosomal recessive, B1 Charcot-Marie-Tooth disease, neuronal, type 2B1 Charcot-Marie-Tooth neuropathy, type 2B1 [Clinical features: weakness and wasting of the distal lower limb muscles; lower limb areflexia; normal or mildly decreased motor nerve conduction velocity] |
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Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C |
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Edited by Aldo Campana,
August 21, 2012
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