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Necklace skeletal muscle fibers

MedGen UID:
1622297
•Concept ID:
C4531254
•
Finding
Synonym: Necklace skeletal muscle fibres
 
HPO: HP:0031238

Definition

A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNecklace skeletal muscle fibers

Recent clinical studies

Etiology

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Biancalana V, Scheidecker S, Miguet M, Laquerrière A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Küsters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B, Laporte J
Acta Neuropathol 2017 Dec;134(6):889-904. Epub 2017 Jul 6 doi: 10.1007/s00401-017-1748-0. PMID: 28685322
A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.
Abath Neto O, Silva MR, Martins Cde A, Oliveira Ade S, Reed UC, Biancalana V, Pesquero JB, Laporte J, Zanoteli E
Pediatr Neurol 2016 May;58:107-12. Epub 2016 Feb 6 doi: 10.1016/j.pediatrneurol.2016.01.023. PMID: 26995067

Diagnosis

X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.
Kraatari M, Tuominen H, Tuupanen S, Haapaniemi T, Moilanen J, Rahikkala E
Eur J Med Genet 2020 Nov;63(11):104040. Epub 2020 Aug 14 doi: 10.1016/j.ejmg.2020.104040. PMID: 32805447
Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers.
Felice KJ, Whitaker CH, Wu Q
Neuromuscul Disord 2018 Apr;28(4):339-345. Epub 2018 Feb 8 doi: 10.1016/j.nmd.2018.02.002. PMID: 29567349
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Biancalana V, Scheidecker S, Miguet M, Laquerrière A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Küsters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B, Laporte J
Acta Neuropathol 2017 Dec;134(6):889-904. Epub 2017 Jul 6 doi: 10.1007/s00401-017-1748-0. PMID: 28685322
Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.
Hedberg C, Lindberg C, Máthé G, Moslemi AR, Oldfors A
Neuromuscul Disord 2012 Mar;22(3):244-51. Epub 2011 Nov 18 doi: 10.1016/j.nmd.2011.10.010. PMID: 22101172

Prognosis

A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.
Abath Neto O, Silva MR, Martins Cde A, Oliveira Ade S, Reed UC, Biancalana V, Pesquero JB, Laporte J, Zanoteli E
Pediatr Neurol 2016 May;58:107-12. Epub 2016 Feb 6 doi: 10.1016/j.pediatrneurol.2016.01.023. PMID: 26995067
Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy.
Gurgel-Giannetti J, Zanoteli E, de Castro Concentino EL, Abath Neto O, Pesquero JB, Reed UC, Vainzof M
Neuromuscul Disord 2012 Jun;22(6):541-5. Epub 2012 Jan 20 doi: 10.1016/j.nmd.2011.12.005. PMID: 22264517

Clinical prediction guides

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.
Liewluck T, Lovell TL, Bite AV, Engel AG
Neuromuscul Disord 2010 Dec;20(12):801-4. doi: 10.1016/j.nmd.2010.07.273. PMID: 20817456Free PMC Article

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