Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation

[1] Auer-Grumbach M(2010)Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C Nat Genet 42 160-164

[2] Olschewski A(2010)Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4 Nat Genet 42 165-169

[3] Papić L(2010)Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C Nat Genet 42 170-174

[4] Kremer H(2010)Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies Brain 133 1798-1809

[5] McEntagart ME(2012)TRPV4 axonal neuropathy spectrum disorder J Clin Neurosci 19 927-933

[6] Uhrig S(2010)CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene Neurology 75 1968-1975

[7] Fischer C(2012)TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients Am J Med Genet A 158 795-802

[8] Fröhlich E(2015)Phenotypic variability of TRPV4 related neuropathies Neuromuscul Disord 25 516-521

[9] Bálint Z(2005)Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24 Ann Neurol 57 293-297

[10] Tang B(1992)A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features Arch Neurol 49 905-908

[1] Auer-Grumbach M(2010)Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C Nat Genet 42 160-164

[2] Olschewski A(2010)Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4 Nat Genet 42 165-169

[3] Papić L(2010)Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C Nat Genet 42 170-174

[4] Kremer H(2010)Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies Brain 133 1798-1809

[5] McEntagart ME(2012)TRPV4 axonal neuropathy spectrum disorder J Clin Neurosci 19 927-933

[6] Uhrig S(2010)CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene Neurology 75 1968-1975

[7] Fischer C(2012)TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients Am J Med Genet A 158 795-802

[8] Fröhlich E(2015)Phenotypic variability of TRPV4 related neuropathies Neuromuscul Disord 25 516-521

[9] Bálint Z(2005)Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24 Ann Neurol 57 293-297

[10] Tang B(1992)A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features Arch Neurol 49 905-908