Associated Papers
Development of a Mitochondrial Myopathy-Composite Assessment Tool.
Flickinger J et al.
Jcsm Clinical Reports, 2021
35071983 (PubMed )
Supplement: NIHMS1767033-supplement-Supplementary_Tables.pdf
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Edgerley K et al.
American Journal of Medical Genetics. Part A, 2021
Genome sequencing in persistently unsolved white matter disorders.
Helman G et al.
Annals of Clinical and Translational Neurology, 2020
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Miyake N et al.
Neurogenetics, 2017
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