Ontology highlight
ABSTRACT:
SUBMITTER: Jayakody H
PROVIDER: S-EPMC7445049 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Jayakody Himali H Zarei Sanam S Nguyen Huy H Dalton Joline J Chen Kelly K Hudgins Louanne L Day John J Withrow Kara K Pandya Arti A Teasley Jean J Dobyns William B WB Mathews Katherine D KD Moore Steven A SA
Journal of neuropathology and experimental neurology 20200901 9
Congenital muscular dystrophy type 1A (MDC1A) is caused by recessive variants in laminin α2 (LAMA2). Patients have been found to have white matter signal abnormalities on magnetic resonance imaging (MRI) but rarely structural brain abnormalities. We describe the autopsy neuropathology in a 17-year-old with white matter signal abnormalities on brain MRI. Dystrophic pathology was observed in skeletal muscle, and the sural nerve manifested a mild degree of segmental demyelination and remyelination. ...[more]