Literature DB >> 6832497

Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred.

M A Salih, M I Omer, R A Bayoumi, O Karrar, M Johnson.   

Abstract

The clinical manifestations, biochemical, electrocardiographic, histological and histochemical features of a severe autosomal recessive muscular dystrophy (MD)--as seen in 15 members of a large Sudanese kindred, both male and female--are reported and discussed. The age of onset ranged from three to five years, the pattern of muscular weakness was similar to that of Duchenne MD and pseudohypertrophy was a remarkable feature. Both sexes became completely dependent by 16 years, and died at or before 20 years of age. The clinical picture in this family and the histological features are compared with those of Duchenne MD and with cases reported from Tunisia, Qatar and Libya. Certain clinical and histological features distinguish all of these types from each other and from the milder autosomal recessive MD of childhood which is more usual in the United Kingdom, Europe, Australia and North America.

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Year:  1983        PMID: 6832497     DOI: 10.1111/j.1469-8749.1983.tb13720.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  7 in total

1.  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

2.  Becker-like muscular dystrophy in sisters.

Authors:  P Diószeghy; M Molnár; F Mechler
Journal:  Eur Arch Psychiatry Clin Neurosci       Date:  1995       Impact factor: 5.270

3.  Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin.

Authors:  I Higuchi; H Yamada; H Fukunaga; H Iwaki; R Okubo; M Nakagawa; M Osame; S L Roberds; T Shimizu; K P Campbell
Journal:  J Clin Invest       Date:  1994-08       Impact factor: 14.808

4.  Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

Authors:  Madhurima Saha; Hemakumar M Reddy; Mustafa A Salih; Elicia Estrella; Michael D Jones; Satomi Mitsuhashi; Kyung-Ah Cho; Silveli Suzuki-Hatano; Skylar A Rizzo; Muddathir H Hamad; Maowia M Mukhtar; Ahlam A Hamed; Maha A Elseed; Monkol Lek; Elise Valkanas; Daniel G MacArthur; Louis M Kunkel; Christina A Pacak; Isabelle Draper; Peter B Kang
Journal:  Physiol Genomics       Date:  2018-08-31       Impact factor: 3.107

5.  Dystrophin analysis in the diagnosis of muscular dystrophy.

Authors:  A M Norman; H E Hughes; D Gardner-Medwin; L V Nicholson
Journal:  Arch Dis Child       Date:  1989-10       Impact factor: 3.791

6.  Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa.

Authors:  F el Kerch; A Sefiani; K Azibi; N Boutaleb; M Yahyaoui; A Bentahila; M C Vinet; F Leturcq; L Bachner; J Beckmann
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318

7.  Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.

Authors:  Claudia Di Blasi; Emanuela Bellafiore; Mustafa Am Salih; M Chiara Manzini; Steven A Moore; Mohammed Z Seidahmed; Maowia M Mukhtar; Zein A Karrar; Christopher A Walsh; Kevin P Campbell; Renato Mantegazza; Lucia Morandi; Marina Mora
Journal:  BMC Res Notes       Date:  2011-12-13
  7 in total

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