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{{STRUCTURE_2cup|  PDB=2cup  |  SCENE=  }}  
{{STRUCTURE_2cup|  PDB=2cup  |  SCENE=  }}  
===Solution structure of the Skeletal muscle LIM-protein 1===
===Solution structure of the Skeletal muscle LIM-protein 1===
==Disease==
[[http://www.uniprot.org/uniprot/FHL1_HUMAN FHL1_HUMAN]] Defects in FHL1 are the cause of X-linked dominant scapuloperoneal myopathy (SPM) [MIM:[http://omim.org/entry/300695 300695]]. Scapuloperoneal syndrome (SPS) was initially described more than 120 years ago by Jules Broussard as 'une forme hereditaire d'atrophie musculaire progressive' beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. The etiology of this condition remains unclear.<ref>PMID:18179901</ref>  Defects in FHL1 are the cause of X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:[http://omim.org/entry/300696 300696]]. Myopathies are inherited muscle disorders characterized by weakness and atrophy of voluntary skeletal muscle, and several types of myopathy also show involvement of cardiac muscle. XMPMA is a distinct form of adult-onset X-linked recessive myopathy with several features in common with other myopathies, but the presentation of a pseudoathletic phenotype, scapuloperoneal weakness, and bent spine is unique and might render the clinical phenotype distinguishable from other myopathies.<ref>PMID:18179888</ref>  Defects in FHL1 are the cause of X-linked severe early-onset reducing body myopathy (RBM) [MIM:[http://omim.org/entry/300717 300717]]. RBM is a rare muscle disorder causing progressive muscular weakness and characteristic intracytoplasmic inclusions in myofibers. Clinical presentations of RBM have ranged from early onset fatal to childhood onset to adult onset cases.<ref>PMID:18274675</ref>  Defects in FHL1 are the cause of X-linked childhood-onset reducing body myopathy (CO-RBM) [MIM:[http://omim.org/entry/300718 300718]]. This disorder is allelic to severe early-onset reducing body myopathy (RBM) [MIM:[http://omim.org/entry/300717 300717]].
==Function==
[[http://www.uniprot.org/uniprot/FHL1_HUMAN FHL1_HUMAN]] May have an involvement in muscle development or hypertrophy.


==About this Structure==
==About this Structure==
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==See Also==
==See Also==
*[[Muscle LIM protein|Muscle LIM protein]]
*[[Muscle LIM protein|Muscle LIM protein]]
==Reference==
<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Inoue, M.]]
[[Category: Inoue, M.]]

Revision as of 00:23, 25 March 2013

Template:STRUCTURE 2cup

Solution structure of the Skeletal muscle LIM-protein 1Solution structure of the Skeletal muscle LIM-protein 1

DiseaseDisease

[FHL1_HUMAN] Defects in FHL1 are the cause of X-linked dominant scapuloperoneal myopathy (SPM) [MIM:300695]. Scapuloperoneal syndrome (SPS) was initially described more than 120 years ago by Jules Broussard as 'une forme hereditaire d'atrophie musculaire progressive' beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. The etiology of this condition remains unclear.[1] Defects in FHL1 are the cause of X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:300696]. Myopathies are inherited muscle disorders characterized by weakness and atrophy of voluntary skeletal muscle, and several types of myopathy also show involvement of cardiac muscle. XMPMA is a distinct form of adult-onset X-linked recessive myopathy with several features in common with other myopathies, but the presentation of a pseudoathletic phenotype, scapuloperoneal weakness, and bent spine is unique and might render the clinical phenotype distinguishable from other myopathies.[2] Defects in FHL1 are the cause of X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]. RBM is a rare muscle disorder causing progressive muscular weakness and characteristic intracytoplasmic inclusions in myofibers. Clinical presentations of RBM have ranged from early onset fatal to childhood onset to adult onset cases.[3] Defects in FHL1 are the cause of X-linked childhood-onset reducing body myopathy (CO-RBM) [MIM:300718]. This disorder is allelic to severe early-onset reducing body myopathy (RBM) [MIM:300717].

FunctionFunction

[FHL1_HUMAN] May have an involvement in muscle development or hypertrophy.

About this StructureAbout this Structure

2cup is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

See AlsoSee Also

ReferenceReference

  1. ↑ Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camano P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet. 2008 Jan;82(1):208-13. PMID:18179901 doi:S0002-9297(07)00019-5
  2. ↑ Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Loscher WN, Wagner K, Lochmuller H, Vincent JB, Quasthoff S. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet. 2008 Jan;82(1):88-99. PMID:18179888 doi:S0002-9297(07)00010-9
  3. ↑ Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bonnemann CG. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450. PMID:18274675 doi:10.1172/JCI34450

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