Etiology
ARHGEF3 variants in postmenopausal osteoporosis (#18499081#)
Reference
Mullin BH, Prince RL, Dick IM, Hart DJ, Spector TD, Dudbridge F, Wilson SG. Identification of a Role for the ARHGEF3 Gene in Postmenopausal Osteoporosis. Am J Hum Genet. 2008 May 21. PMID: #18499081#
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postmenopausal osteoporosis
2 June 2008 -
myoclonus-dystonia
7 October 2003Myoclonus-dystonia is a movement disorder characterized by rapid muscle contractions and sustained twisting and repetitive movements. The mode of inheritance is autosomal dominant with reduced penetrance upon maternal transmission, suggesting a putative maternal imprinting mechanism.
Etiology
mutations in the epsilon-sarcoglycan gene (SGCE)
Références: #12444570# -
pyoderma gangrenosum
11 February 2004Definition: Pyoderma gangrenosum (PG) is an uncommon, chronic ulcerative condition of the skin that was first described in 1930. It can occur in any age group, but only 4% of the patients are infants or children. An underlying systemic disease is present in approximately 50% of the patients with PG.
The most common associations include inflammatory bowel disease, arthritis, lymphoproliferative disorders and chronic recurrent multifocal osteomyelitis (CRMO).
Pyoderma gangrenosum (PG) is a (...) -
myotonic dystrophy
22 September 2003Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, is a clinically and genetically heterogeneous neuromuscular disorder. DM is characterized by autosomal dominant inheritance, muscular dystrophy, myotonia, and multisystem involvement.
Etiology
Type 1 DM (DM1) is caused by a (CTG)(n) expansion in the 3’ untranslated region of the DMPK gene in 19q13.3.
Type 2 DM (DM2) but without the DM1 mutation, showed linkage to the 3q21 region and were recently shown to (...) -
Tourette syndrome
3 September 2004Gilles de la Tourette syndrome
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progressive osseous heteroplasia
30 September 2009Progressive Osseous Heteroplasia (HOP), more recently described, shares some similarities with Albrights hereditary osteodystrophy. In HOP, the intramembranous ossifications progressively developped from the dermis to the deeper layer. The genetic abnormality involved the GNAS1 gene leading to an inactivation of the alpha subunit of the G protein-complex.
See also
inherited ossifying diseases
References
Inherited ossifying diseases. Job-Deslandre C. Joint Bone Spine. 2004 (...) -
Ullrich congenital muscular dystrophy
23 September 2003Ullrich’s congenital muscular dystrophy, UCMD, scleroatonic muscular dystrophy
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