Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion
نویسندگان
چکیده
منابع مشابه
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
OBJECTIVE To determine the clinical consequences of the PMP22 point mutation, T118M, which has been previously considered to either cause an autosomal recessive form of Charcot-Marie-Tooth (CMT) disease or be a benign polymorphism. METHODS We analyzed patients from five separate kindreds and characterized their peripheral nerve function by clinical and electrophysiological methods. RESULTS ...
متن کاملGenetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion.
Charcot-Marie-Tooth disease type 1 A (CMT1A, OMIM #118220) and hereditary neuropathy with liability to pressure palsies (HNPP or tomaculous neu-ropathy, OMIM #162500) are autosomal dominantly inherited neuropathies caused by genomic rearrangements on chromosome 17p11.2-p12 containing PMP22. Heterozygous PMP22 duplications result in a peripheral neuropathy characterized by distal muscular atroph...
متن کاملVariable phenotypes are associated with PMP22 missense mutations.
Charcot-Marie-Tooth disease (CMT) is the commonest hereditary neuropathy encompassing a large group of clinically and genetically heterogeneous disorders. The commonest form of CMT, CMT1A, is usually caused by a 1.4 megabase duplication of chromosome 17 containing the PMP22 gene. Mutations of PMP22 are a less common cause of CMT. We describe clinical, electrophysiological and molecular findings...
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508 Ann Dermatol Received August 8, 2012, Revised December 24, 2012, Accepted for publication December 26, 2012 *These authors contributed equally to this work. Corresponding author: Xue-Jun Zhang, Institute of Dermatology, Anhui Medical University, No. 81, Meishan Road, Hefei, Anhui 230032, China. Tel: 86-551-5161002, Fax: 86-551-5161016, E-mail: ayzxj@ vip.sina.com This is an Open Access arti...
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ژورنال
عنوان ژورنال: Muscle & Nerve
سال: 2015
ISSN: 0148-639X
DOI: 10.1002/mus.24713