Details of Disease

General Information of Disease (ID: DISE0ICN)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2C
• Synonyms: limb-girdle muscular dystrophy, type 2C; Dmda; sarcoglycan, gamma, deficiency of; limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency; muscular dystrophy, Duchenne-like; severe childhood autosomal recessive muscular dystrophy, North African type; Duchenne-like muscular dystrophy, autosomal recessive, type 1; Adhalin deficiency, secondary; DMDA1; SCARMD; SGCG autosomal recessive limb-girdle muscular dystrophy; muscular dystrophy, limb-girdle, type 2C; severe childhood autosomal recessive muscular dystrophy North African type; LGMD2C; Maghrebian myopathy; autosomal recessive limb-girdle muscular dystrophy type 2C; deficiency of sarcoglycan gamma; muscular dystrophy, limb-girdle, autosomal recessive 5; autosomal recessive Duchenne-like muscular dystrophy type 1; gamma-sarcoglycanopathy; limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG
• Definition: Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.
• Disease Hierarchy:
  DISBHDU9: Familial dilated cardiomyopathy
  DISGA5FN: Qualitative or quantitative defects of gamma-sarcoglycan
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DISE0ICN: Autosomal recessive limb-girdle muscular dystrophy type 2C
• Disease Identifiers:
  MONDO ID: MONDO_0009677
  MESH ID: C535900
  UMLS CUI: C0410173
  OMIM ID: 253700
  MedGen ID: 98045
  Orphanet ID: 353

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DMD	TTWLFXU	moderate	Biomarker	[1]
DYSF	TTA7MXQ	Strong	Altered Expression	[2]
SGCG	TTSMT9W	Strong	Genetic Variation	[3]
SGCA	TTS9Q5V	Definitive	Biomarker	[1]
SGCG	TTSMT9W	Definitive	Autosomal recessive	[4]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CAPN3	OTCHG3YK	Strong	Biomarker	[5]
LAMA2	OTFROQWE	Strong	Genetic Variation	[2]
SSPN	OTYG2SL7	Strong	Biomarker	[6]
SGCG	OTOLWHIQ	Definitive	Autosomal recessive	[4]

References

• [1] Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.Neuromuscul Disord. 2000 Feb;10(2):100-7. doi: 10.1016/s0960-8966(99)00063-2.
• [2] Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.Methods Mol Biol. 2018;1828:79-90. doi: 10.1007/978-1-4939-8651-4_5.
• [3] Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.Physiol Genomics. 2018 Nov 1;50(11):929-939. doi: 10.1152/physiolgenomics.00036.2018. Epub 2018 Aug 31.
• [4] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [5] Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.Am J Med Genet. 1999 Feb 19;82(5):392-8. doi: 10.1002/(sici)1096-8628(19990219)82:5<392::aid-ajmg7>3.0.co;2-0.
• [6] Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.Hum Mol Genet. 2000 Aug 12;9(13):2019-27. doi: 10.1093/hmg/9.13.2019.