A Mouse Model of Schwartz-Jampel Syndrome Reveals Myelinating Schwann Cell Dysfunction with Persistent Axonal Depolarization in Vitro and Distal Peripheral Nerve Hyperexcitability When Perlecan Is Lacking
نویسندگان
چکیده
منابع مشابه
Schwartz-Jampel syndrome.
This is a report of a very rare case of Schwartz Jampel syndrome, with few unusual findings, in a 13 years girl from Nepal, who concurrently also had superotemporal subluxation of the crystalline lens along with blepharophimosis syndrome.
متن کاملSchwartz-Jampel syndrome (chondrodystrophic myotonia).
Schwartz-Jampel syndrome is a rare autosomal recessive disorder. Joint contractures, generalised myotonia, skeletal anomalies, and facial dysmorphism are common features; malignant hyperthermia is a potentially lethal complication during anaesthesia.
متن کاملReduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome.
Perlecan knock-in mice were developed to model Schwartz-Jampel syndrome (SJS), a skeletal disease resulting from decreased perlecan. Two mouse strains were generated: those carrying a C-to-Y mutation at residue 1532 and the neomycin cassette (C1532Yneo) and those harboring the mutation alone (C1532Y). Immunostaining, biochemistry, size measurements, skeletal studies and histology revealed Hspg2...
متن کاملThe Schwartz-Jampel Syndrome. A Minireview
The Schwartz-Jampel Syndrome (SJS) is a very rare condition characterised by Constant fìndings such as typical facial appearance, muscle hypertrophy and continuous muscle activity. Other fìndings are more or less frequently associated, especially skeletai abnormalities, including dwarfism or anyway short stature. The Authors review thè literature about this condition analysing thè clinical pict...
متن کاملSchwartz-Jampel syndrome. A case report.
A rare case of Schwartz-Jampel Syndrome is reported. Its main oral and facial manifestations are highlighted.
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ژورنال
عنوان ژورنال: The American Journal of Pathology
سال: 2012
ISSN: 0002-9440
DOI: 10.1016/j.ajpath.2012.01.035