CMT 2C: Don't change that (calcium) channel: mutations in the same calcium chann

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Clin Genet. 2010 Aug;78(2):134-6.

Don't change that (calcium) channel: mutations in the same calcium channel gene

can cause multiple distinct phenotypes.

Sawkins J.

The Kaiser Permanente Medical Group, San Francisco Genetics Department, 2350

Geary Blvd, San Francisco, CA 94115, USA. e-mail:

Abstract

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused

by alterations in TRPV4 Deng et al. (2010) Nature Genetics 42(2):165-169

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C Landouré et al.

(2010) Nature Genetics 42(2):170-174 Alterations in the ankyrin domain of TRPV4

cause congenital distal SMA, scapuloperoneal SMA and HMSN2C Auer-Grumbach et al.