LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy.

Prandini, P

LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy. [electronic resource] - Neurology Sep 2004 - 1118-21 p. digital

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

1526-632X

10.1212/01.wnl.0000138498.66940.7f doi


Adolescent
Biopsy
Brain--pathology
Child
Chromosomes, Human, Pair 6--genetics
Exons--genetics
Female
Genes, Recessive
Homozygote
Humans
Intellectual Disability--genetics
Laminin--analysis
Magnetic Resonance Imaging
Muscle, Skeletal--chemistry
Muscular Dystrophies--congenital
Sequence Analysis, DNA
Sequence Deletion