Expanding the clinical spectrum of POMT1 phenotype.

D'Amico, A

Expanding the clinical spectrum of POMT1 phenotype. [electronic resource] - Neurology May 2006 - 1564-7; discussion 1461 p. digital

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

1526-632X

10.1212/01.wnl.0000216145.66476.36 doi


Adolescent
Age of Onset
Child, Preschool
Codon, Nonsense
Contracture--genetics
Disease Progression
Female
Glycosylation
Humans
Hypertrophy
Infant
Intellectual Disability--genetics
Leg--pathology
Magnetic Resonance Imaging
Male
Mannosyltransferases--deficiency
Microcephaly--genetics
Muscular Dystrophies--genetics
Mutation, Missense
Phenotype
Point Mutation
Protein Processing, Post-Translational
Syndrome