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McLeod syndrome: Five new pedigrees with novel mutations.

TitleMcLeod syndrome: Five new pedigrees with novel mutations.
Publication TypeJournal Article
Year of Publication2019
AuthorsWeaver J, Sarva H, Barone D, Bobker S, Bushara K, Hiller A, Ishii M, Jankovic J, Lakhani S, Niotis K, Scharre DW, Tuite P, Stutz A, Westhoff CM, Walker RH
JournalParkinsonism Relat Disord
Volume64
Pagination293-299
Date Published2019 07
ISSN1873-5126
KeywordsAdult, Amino Acid Transport Systems, Neutral, Comorbidity, Creatine Kinase, Europe, Humans, Male, Middle Aged, Mutation, Neuroacanthocytosis, Pedigree, Retrospective Studies, Sleep Apnea, Obstructive, Vietnam
Abstract

OBJECTIVE: To present five new McLeod Syndrome (MLS) pedigrees with novel XK gene mutations, review the literature of this disorder, and discuss the typical and atypical clinical features noted with these new mutations.

METHODS: This is a multi-center retrospective review of five MLS cases with novel gene mutations. Genotypic and phenotypic information has been obtained from each center.

RESULTS: Five novel mutations are reported in this Case series. New clinical findings include prolonged asymptomatic elevated creatine kinase (CK) levels, vocal tics, presence of obstructive sleep apnea (OSA), and one patient of Vietnamese ethnicity.

CONCLUSIONS: We expand on the clinical and genetic spectrum of MLS demonstrating the clinical variability of MLS.

DOI10.1016/j.parkreldis.2019.04.022
Alternate JournalParkinsonism Relat. Disord.
PubMed ID31103486

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