Literature DB >> 1248180

Autosomal recessive muscular dystrophy in Manitoba Hutterites.

M H Shokeir, N L Kobrinsky.   

Abstract

A slowly progressive type of muscular dystrophy affecting 11 known members of several Southern Manitoba Hutterite colonies is described. Though encompassing the facial characteristics of the facio-scapulo-humeral type and the proximal distribution of the limb-girdle type, it was felt that this disease represents a distinct type of muscular dystrophy with autosomal recessive inheritance. Since all "affected" colonies can be traced to one founding colony in South Dakota, the disease may have been introduced from Europe between 1874 and 1879. Furthermore, normal fertility and a high degree of inbreeding in a genetically isolated population have contributed to the maintenance of the disease in the population.

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Year:  1976        PMID: 1248180     DOI: 10.1111/j.1399-0004.1976.tb01568.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  11 in total

1.  Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.

Authors:  M C Speer; L H Yamaoka; J H Gilchrist; C P Gaskell; J M Stajich; J M Vance; A Kazantsev; A A Lastra; C S Haynes; J S Beckmann
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

2.  Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.

Authors:  M C Speer; J M Vance; J M Grubber; F Lennon Graham; J M Stajich; K D Viles; A Rogala; R McMichael; J Chutkow; C Goldsmith; R W Tim; M A Pericak-Vance
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

3.  Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.

Authors:  Patrick Frosk; Tracey Weiler; Edward Nylen; Thangirala Sudha; Cheryl R Greenberg; Kenneth Morgan; T Mary Fujiwara; Klaus Wrogemann
Journal:  Am J Hum Genet       Date:  2002-01-29       Impact factor: 11.025

4.  Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H.

Authors:  Elena Kudryashova; Irina Kramerova; Melissa J Spencer
Journal:  J Clin Invest       Date:  2012-04-16       Impact factor: 14.808

5.  Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Authors:  Juliette Nectoux; Rafael de Cid; Sylvain Baulande; France Leturcq; Jon Andoni Urtizberea; Isabelle Penisson-Besnier; Aleksandra Nadaj-Pakleza; Carinne Roudaut; Audrey Criqui; Lucie Orhant; Delphine Peyroulan; Raba Ben Yaou; Isabelle Nelson; Anna Maria Cobo; Marie-Christine Arné-Bes; Emmanuelle Uro-Coste; Patrick Nitschke; Mireille Claustres; Gisèle Bonne; Nicolas Lévy; Jamel Chelly; Isabelle Richard; Mireille Cossée
Journal:  Eur J Hum Genet       Date:  2014-10-29       Impact factor: 4.246

6.  Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.

Authors:  U Francke; B T Darras; J H Hersh; B O Berg; R G Miller
Journal:  Am J Hum Genet       Date:  1989-07       Impact factor: 11.025

7.  Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.

Authors:  M C Speer; J M Gilchrist; J G Chutkow; R McMichael; C A Westbrook; J M Stajich; E M Jorgenson; P C Gaskell; B L Rosi; R Ramesar
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

8.  A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.

Authors:  T Weiler; C R Greenberg; T Zelinski; E Nylen; G Coghlan; M J Crumley; T M Fujiwara; K Morgan; K Wrogemann
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

9.  Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component.

Authors:  Elena Kudryashova; Jun Wu; Leif A Havton; Melissa J Spencer
Journal:  Hum Mol Genet       Date:  2009-01-19       Impact factor: 6.150

Review 10.  TRIM32: A Multifunctional Protein Involved in Muscle Homeostasis, Glucose Metabolism, and Tumorigenesis.

Authors:  Simranjot Bawa; Rosanna Piccirillo; Erika R Geisbrecht
Journal:  Biomolecules       Date:  2021-03-10
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