TY - CONF T1 - A family with a TRPV4 related neuropathy displays marked phenotypic variability ranging from profound neuromuscular disability to non-penetrance JO - NEUROMUSCULAR DISORDERS PY - 2011/03/01 AU - Aharoni S AU - Harlalka G AU - Offiah A AU - Shuper A AU - Crosby AH AU - McEntagart M ED - VL - 21 SP - S17 EP - S17 Y2 - 2025/06/23 ER -