Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:P50583 (
asymmetrical
)
12,197
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Charcot-Marie-Tooth (CMT) 1A is the most common form of CMT disease and is characterized by duplication of
Peripheral myelin protein 22
(
PMP22
) gene. We report a boy with genetically confirmed CMT1A disease having clinical involvement of hypoglossal and glossopharyngeal nerves, as well as
asymmetrical
and primarily upper limb involvement. These atypical features widen the clinical spectrum of CMT1A, leading to interesting observations about
PMP22
gene related disorders and varied clinical expression of similar genetic mutations.
...
PMID:Atypical presentation of Charcot-Marie-Tooth disease 1A: A case report. 2643 65
