Abnormal muscle fiber alpha sarcoglycan

MedGen UID:: 868253
•Concept ID:: C4022645
•: Anatomical Abnormality

Synonym:	Abnormal muscle fibre alpha sarcoglycan

HPO:	HP:0030100

Definition

Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal muscle fiber alpha sarcoglycan

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal skeletal muscle morphology
      - Abnormal muscle fiber morphology
        Abnormal muscle fiber protein expression
        Abnormal muscle fiber alpha sarcoglycan
        Absent muscle fiber alpha sarcoglycan
        Reduced muscle fiber alpha sarcoglycan

Recent clinical studies

Etiology

Physiopathology of vesico-ureteral reflux.

Arena S, Iacona R, Impellizzeri P, Russo T, Marseglia L, Gitto E, Romeo C
Ital J Pediatr 2016 Nov 29;42(1):103. doi: 10.1186/s13052-016-0316-x. PMID: 27899160 Free PMC Article

Spectrum of congenital myopathies: a single centre experience.

Uppin MS, Meena AK, Sundaram C
Neurol India 2013 May-Jun;61(3):254-9. doi: 10.4103/0028-3886.115064. PMID: 23860144

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M
Brain 2007 Dec;130(Pt 12):3250-64. doi: 10.1093/brain/awm271. PMID: 18055494

Asymptomatic or minimally symptomatic hyperCKemia: histopathologic correlates.

Dabby R, Sadeh M, Herman O, Berger E, Watemberg N, Hayek S, Jossiphov J, Nevo Y
Isr Med Assoc J 2006 Feb;8(2):110-3. PMID: 16544734

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Diagnosis

Spectrum of congenital myopathies: a single centre experience.

Uppin MS, Meena AK, Sundaram C
Neurol India 2013 May-Jun;61(3):254-9. doi: 10.4103/0028-3886.115064. PMID: 23860144

Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy.

Baumeister SK, Todorovic S, Milić-Rasić V, Dekomien G, Lochmüller H, Walter MC
Neuromuscul Disord 2009 Feb;19(2):167-71. Epub 2009 Jan 23 doi: 10.1016/j.nmd.2008.11.010. PMID: 19167890

Asymptomatic or minimally symptomatic hyperCKemia: histopathologic correlates.

Dabby R, Sadeh M, Herman O, Berger E, Watemberg N, Hayek S, Jossiphov J, Nevo Y
Isr Med Assoc J 2006 Feb;8(2):110-3. PMID: 16544734

See all (3)

Therapy

Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy.

Baumeister SK, Todorovic S, Milić-Rasić V, Dekomien G, Lochmüller H, Walter MC
Neuromuscul Disord 2009 Feb;19(2):167-71. Epub 2009 Jan 23 doi: 10.1016/j.nmd.2008.11.010. PMID: 19167890

Expression of dystrophin-associated glycoproteins and utrophin in carriers of Duchenne muscular dystrophy.

Sewry CA, Matsumura K, Campbell KP, Dubowitz V
Neuromuscul Disord 1994 Sep-Nov;4(5-6):401-9. doi: 10.1016/0960-8966(94)90079-5. PMID: 7881285

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Prognosis

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome.

Vajsar J, Ackerley C, Chitayat D, Becker LE
Pediatr Neurol 2000 Feb;22(2):139-43. doi: 10.1016/s0887-8994(99)00129-0. PMID: 10738921

Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.

Nowak KJ, Walsh P, Jacob RL, Johnsen RD, Peverall J, McNally EM, Wilton SD, Kakulas BA, Laing NG
Neuromuscul Disord 2000 Feb;10(2):100-7. doi: 10.1016/s0960-8966(99)00063-2. PMID: 10714584

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Clinical prediction guides

Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.

Nowak KJ, Walsh P, Jacob RL, Johnsen RD, Peverall J, McNally EM, Wilton SD, Kakulas BA, Laing NG
Neuromuscul Disord 2000 Feb;10(2):100-7. doi: 10.1016/s0960-8966(99)00063-2. PMID: 10714584

Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy.

Ishii H, Hayashi YK, Nonaka I, Arahata K
Neuromuscul Disord 1997 May;7(3):191-7. doi: 10.1016/s0960-8966(97)00462-8. PMID: 9185184

Dystrophin-associated protein abnormalities in dystrophin-deficient muscle fibers from symptomatic and asymptomatic Duchenne/Becker muscular dystrophy carriers.

Di Blasi C, Morandi L, Barresi R, Blasevich F, Cornelio F, Mora M
Acta Neuropathol 1996 Oct;92(4):369-77. doi: 10.1007/s004010050532. PMID: 8891069

Laminin abnormality in severe childhood autosomal recessive muscular dystrophy.

Yamada H, Tomé FM, Higuchi I, Kawai H, Azibi K, Chaouch M, Roberds SL, Tanaka T, Fujita S, Mitsui T
Lab Invest 1995 Jun;72(6):715-22. PMID: 7783429

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