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An adult with a rare form of congenital fiber type disproportion
Author(s) -
Anandan Charenya,
Milone Margherita
Publication year - 2018
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25954
Subject(s) - neurology , medicine , citation , pediatrics , library science , computer science , psychiatry
(92nd age-matched percentile). He also exhibited osteopenia, with low bone mass densities in the lumbar spine and femoral neck (T score, 21.7). Furthermore, he exhibited dyslipidemia, with high lowdensity lipoprotein levels and an elevated hemoglobin A1c level indicating prediabetes. The diagnosis of SBMA was confirmed with the detection of 72 CAG repeats in AR exon 1 by using Sanger sequencing and capillary electrophoresis of polymerase chain reaction products analyzed in GeneMapper software (Thermo Fisher Scientific, Waltham, MA; Fig. 1).