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Items: 1 to 20 of 32

1.

Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I.

Hauerslev S, Sveen ML, Vissing J, Krag TO.

PLoS One. 2013 Jun 28;8(6):e66929. doi: 10.1371/journal.pone.0066929. Print 2013.

2.

Muscle phenotypic variability in limb girdle muscular dystrophy 2 G.

Paim JF, Cotta A, Vargas AP, Navarro MM, Valicek J, Carvalho E, da-Cunha AL Jr, Plentz E, Braz SV, Takata RI, Almeida CF, Vainzof M.

J Mol Neurosci. 2013 Jun;50(2):339-44. doi: 10.1007/s12031-013-9987-6. Epub 2013 Mar 12.

PMID:
23479141
3.

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

Takahashi T, Aoki M, Suzuki N, Tateyama M, Yaginuma C, Sato H, Hayasaka M, Sugawara H, Ito M, Abe-Kondo E, Shimakura N, Ibi T, Kuru S, Wakayama T, Sobue G, Fujii N, Saito T, Matsumura T, Funakawa I, Mukai E, Kawanami T, Morita M, Yamazaki M, Hasegawa T, Shimizu J, Tsuji S, Kuzuhara S, Tanaka H, Yoshioka M, Konno H, Onodera H, Itoyama Y.

J Neurol Neurosurg Psychiatry. 2013 Apr;84(4):433-40. doi: 10.1136/jnnp-2011-301339. Epub 2012 Dec 15.

4.

ANO5-Related Muscle Diseases.

Penttilä S, Palmio J, Udd B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2012 Nov 29.

5.

LAMA2-Related Muscular Dystrophy.

Quijano-Roy S, Sparks SE, Rutkowski A.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2012 Jun 7.

6.

[Miyoshi distal muscular dystrophy (Miyoshi myopathy)].

Kawai H.

Brain Nerve. 2011 Feb;63(2):147-56. Review. Japanese.

PMID:
21301039
7.

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

Hicks D, Sarkozy A, Muelas N, Köehler K, Huebner A, Hudson G, Chinnery PF, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes PJ, Roberts R, Krause S, Walter MC, Laval SH, Straub V, Lochmüller H, Bushby K.

Brain. 2011 Jan;134(Pt 1):171-182. doi: 10.1093/brain/awq294.

8.

Calpainopathy.

Angelini C, Fanin M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 May 10 [updated 2017 Aug 3].

9.

Charcot-Marie-Tooth Neuropathy Type 2E/1F.

De Jonghe P, Jordanova AK.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Apr 1 [updated 2011 Oct 27].

10.

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

Pollazzon M, Suominen T, Penttilä S, Malandrini A, Carluccio MA, Mondelli M, Marozza A, Federico A, Renieri A, Hackman P, Dotti MT, Udd B.

J Neurol. 2010 Apr;257(4):575-9. doi: 10.1007/s00415-009-5372-3. Epub 2009 Nov 13.

PMID:
19911250
11.

Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly.

Zhang R, Yang J, Zhu J, Xu X.

Hum Mol Genet. 2009 Nov 1;18(21):4130-40. doi: 10.1093/hmg/ddp362. Epub 2009 Aug 12.

12.

A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles.

Williams DR, Reardon K, Roberts L, Dennet X, Duff R, Laing NG, Byrne E.

Neurology. 2005 Apr 12;64(7):1245-54.

PMID:
15824355
13.

Spinal muscular atrophy: survival pattern and functional status.

Chung BH, Wong VC, Ip P.

Pediatrics. 2004 Nov;114(5):e548-53. Epub 2004 Oct 18.

PMID:
15492357
14.

Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study.

Mercuri E, Messina S, Kinali M, Cini C, Longman C, Battini R, Cioni G, Muntoni F.

Neuromuscul Disord. 2004 Feb;14(2):125-9.

PMID:
14733958
15.

Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.

Mahjneh I, Marconi G, Bushby K, Anderson LV, Tolvanen-Mahjneh H, Somer H.

Neuromuscul Disord. 2001 Jan;11(1):20-6.

PMID:
11166162
16.

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.

Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE.

Nat Genet. 2000 Feb;24(2):163-6.

PMID:
10655062
17.

[A case of myotonic dystrophy showing proximal dominant muscle involvement but not myotonia].

Mihori A, Miyauchi H, Kaneda K, Nakayama M, Ono S, Shimizu N.

Rinsho Shinkeigaku. 1999 Apr;39(4):461-4. Japanese.

PMID:
10391974
18.

[Neurological CPC.57. An 80-year-old woman with four years history of muscle atrophy involving lower extremities predominantly on the right side].

Miwa H, Mori H, Sumino S, Matsuoka S, Shirai T, Imai H, Mizuno Y.

No To Shinkei. 1997 Sep;49(9):857-65. Japanese.

PMID:
9311007
19.

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.

Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR.

Am J Hum Genet. 1997 Jul;61(1):151-9.

20.

[A family of autosomal dominant facio-limb-girdle muscular dystrophy].

Takao S, Kira J, Kohtake N, Yoshimura T, Goto I.

Fukuoka Igaku Zasshi. 1996 Dec;87(12):278-82. Review. Japanese.

PMID:
9011111

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