Article
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Neurogenetics - 1 Dec 2017
Miyake Noriko, Wolf Nicole I, Cayami Ferdy K, Crawford Joanna, Bley Annette, Bulas Dorothy, Conant Alex, Bent Stephen J, Gripp Karen W, Hahn Andreas, Humphray Sean, Kimura-Ohba Shihoko, Kingsbury Zoya, Lajoie Bryan R, Lal Dennis, Micha Dimitra, Pizzino Amy, Sinke Richard J, Sival Deborah, Stolte-Dijkstra Irene, Superti-Furga Andrea, Ulrick Nicole, Taft Ryan J, Ogata Tsutomu, Ozono Keiichi, Matsumoto Naomichi, Neubauer Bernd A, Simons Cas, Vanderver Adeline
Abstract excerpt
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIFM1 mutation. In our study, 12 patients (6 families) with H-SMD were identified and underwent comprehensive assessment accompanied by whole-exome...
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