Muscle MRI in TRPV4-related congenital distal SMA

Neurology

Volumn 78, Issue 5, 2012, Pages 364-365

  Astrea, G ^a   Brisca, G ^a   Fiorillo, C ^a   Valle, M ^a   Tosetti, M ^a   Bruno, C ^a   Santorelli, F M ^a   Battini, R ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

VANILLOID RECEPTOR 4; TRPV4 PROTEIN, HUMAN; VANILLOID RECEPTOR;

ARTICLE; CASE REPORT; CHILD; CLUBFOOT; ELECTROMYOGRAM; FEMALE; HUMAN; HUMAN TISSUE; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPINAL MUSCULAR ATROPHY; ELECTROMYOGRAPHY; GENETICS; HEREDITARY SPINAL MUSCULAR ATROPHY; MUTATION; PATHOLOGY; PHYSIOLOGY; SKELETAL MUSCLE;

CHILD; CHILD, PRESCHOOL; ELECTROMYOGRAPHY; FEMALE; HUMANS; MALE; MUSCLE, SKELETAL; MUTATION; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; TRPV CATION CHANNELS;

EID: 84858020186     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318245295a     Document Type: Note

References (2)

1. Auer-Grumbach M, Olschewski A, Papic L, et al. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet 2010;42:160 -164.
2. Mercuri E, Messina S, Kinali M, et al. Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study. Neuromuscul Disord 2004;14:125-129. (Pubitemid 38083320)