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POLG mutations presenting as Charcot‐Marie‐Tooth disease
Author(s) -
Phillips Jade,
Courel Steve,
Rebelo Adriana P.,
BisBrewer Dana M.,
Bardakjian Tanya,
Dankwa Lois,
Hamedani Ali G.,
Züchner Stephan,
Scherer Steven S.
Publication year - 2019
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12313
Subject(s) - tooth disease , compound heterozygosity , mutation , medicine , phenotype , genetics , peripheral neuropathy , long arm , disease , biology , chromosome , pathology , endocrinology , gene , diabetes mellitus
We report on two patients, with different POLG mutations, in whom axonal neuropathy dominated the clinical picture. One patient presented with late onset sensory axonal neuropathy caused by a homozygous c.2243G>C (p.Trp748Ser) mutation that resulted from uniparental disomy of the long arm of chromosome 15. The other patient had a complex phenotype that included early onset axonal Charcot‐Marie‐Tooth disease (CMT) caused by compound heterozygous c.926G>A (p.Arg309His) and c.2209G>C (p.Gly737Arg) mutations.