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Abnormal muscle fiber dysferlin

MedGen UID:
868240
•Concept ID:
C4022632
•
Anatomical Abnormality
Synonym: Abnormal muscle fibre dysferlin
 
HPO: HP:0030113

Definition

A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing. [from HPO]

Recent clinical studies

Etiology

Impaired muscle spindle function in murine models of muscular dystrophy.
Gerwin L, Rossmanith S, Haupt C, Schultheiß J, Brinkmeier H, Bittner RE, Kröger S
J Physiol 2020 Apr;598(8):1591-1609. Epub 2020 Feb 21 doi: 10.1113/JP278563. PMID: 32003874
Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy.
Pradhan S
Neurol India 2009 Mar-Apr;57(2):172-5. doi: 10.4103/0028-3886.51287. PMID: 19439848
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN
Neuromuscul Disord 2008 Jan;18(1):34-44. Epub 2007 Sep 25 doi: 10.1016/j.nmd.2007.08.009. PMID: 17897828
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
Benign calf amyotrophy: clinicopathologic study of 8 patients.
Felice KJ, Whitaker CH, Grunnet ML
Arch Neurol 2003 Oct;60(10):1415-20. doi: 10.1001/archneur.60.10.1415. PMID: 14568812

Diagnosis

Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy.
Pradhan S
Neurol India 2009 Mar-Apr;57(2):172-5. doi: 10.4103/0028-3886.51287. PMID: 19439848
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN
Neuromuscul Disord 2008 Jan;18(1):34-44. Epub 2007 Sep 25 doi: 10.1016/j.nmd.2007.08.009. PMID: 17897828
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
Benign calf amyotrophy: clinicopathologic study of 8 patients.
Felice KJ, Whitaker CH, Grunnet ML
Arch Neurol 2003 Oct;60(10):1415-20. doi: 10.1001/archneur.60.10.1415. PMID: 14568812

Therapy

Benign calf amyotrophy: clinicopathologic study of 8 patients.
Felice KJ, Whitaker CH, Grunnet ML
Arch Neurol 2003 Oct;60(10):1415-20. doi: 10.1001/archneur.60.10.1415. PMID: 14568812

Prognosis

Morphological Alterations of the Sarcotubular System in Permanent Myopathy of Hereditary Hypokalemic Periodic Paralysis with a Mutation in the CACNA1S Gene.
Nagasaka T, Hata T, Shindo K, Adachi Y, Takeuchi M, Saito K, Takiyama Y
J Neuropathol Exp Neurol 2020 Dec 4;79(12):1276-1292. doi: 10.1093/jnen/nlaa098. PMID: 33184660

Clinical prediction guides

Morphological Alterations of the Sarcotubular System in Permanent Myopathy of Hereditary Hypokalemic Periodic Paralysis with a Mutation in the CACNA1S Gene.
Nagasaka T, Hata T, Shindo K, Adachi Y, Takeuchi M, Saito K, Takiyama Y
J Neuropathol Exp Neurol 2020 Dec 4;79(12):1276-1292. doi: 10.1093/jnen/nlaa098. PMID: 33184660
Impaired muscle spindle function in murine models of muscular dystrophy.
Gerwin L, Rossmanith S, Haupt C, Schultheiß J, Brinkmeier H, Bittner RE, Kröger S
J Physiol 2020 Apr;598(8):1591-1609. Epub 2020 Feb 21 doi: 10.1113/JP278563. PMID: 32003874
Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy.
Pradhan S
Neurol India 2009 Mar-Apr;57(2):172-5. doi: 10.4103/0028-3886.51287. PMID: 19439848
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M
Ann Neurol 2003 Apr;53(4):512-20. doi: 10.1002/ana.10501. PMID: 12666119

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