Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.

Pedurupillay, Christeen Ramane J

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2. [electronic resource] - Neuromuscular disorders : NMD 09 2016 - 570-5 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1873-2364

10.1016/j.nmd.2016.06.457 doi


Child
Child, Preschool
DNA-Binding Proteins--genetics
Fatal Outcome
Female
Humans
Infant
Male
Mutation
Phenotype
Respiratory Insufficiency--genetics
Siblings
Spinal Muscular Atrophies of Childhood--genetics
Transcription Factors--genetics