Premium
Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations
Author(s) -
Okazaki T.,
Saito Y.,
Hayashida T.,
Akaboshi S.,
Miyake N.,
Matsumoto N.,
Kasagi N.,
Adachi K.,
Shinohara Y.,
Nanba E.,
Maegaki Y.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13378
Subject(s) - white matter , dysgenesis , phenotype , biology , cerebellum , anatomy , pathology , medicine , gene , magnetic resonance imaging , genetics , neuroscience , radiology
LAMB1 gene analysis should be considered for intellectually disabled patients with cerebellar cysts, white matter signal change, and cortical malformation. Muscular involvement is absent, in contrast to the α‐dystroglycanopathy types of congenital muscular dystrophies.