POLG  mutations presenting as Charcot‐Marie‐Tooth disease | Zendy

Phillips Jade | Zendy; Courel Steve | Zendy; Rebelo Adriana P. | Zendy; BisBrewer Dana M. | Zendy; Bardakjian Tanya | Zendy; Dankwa Lois | Zendy; Hamedani Ali G. | Zendy; Züchner Stephan | Zendy; Scherer Steven S. | Zendy

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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 , mutation , compound heterozygosity , medicine , genetics , phenotype , peripheral neuropathy , disease , clinical phenotype , biology , 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.

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