Don't change that (calcium) channel: mutations in the same calcium channel gene can cause multiple distinct phenotypes |
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| Authors: | JN Sawkins |
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| Affiliation: | The Kaiser Permanente Medical Group, San Francisco Genetics Department, 2350 Geary Blvd, San Francisco, CA 94115, USA.
e‐mail: Jessica.N.Sawkins@kp.org |
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| 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. (2010) Nature Genetics 42(2):160–164 |
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