PatientCell: CL:0000187 (Muscle Cell)

GeneFunction: Muscle Cell Apoptotic Process (GO:0010657)

GeneAlteration: Samples were collected from deltoid muscle biopsy of control individuals and LGMD2C individuals with the 525delT founder mutation. No further alteration necessary.

FunctionalEvidence: TUNEL staining was perfomed on muscle samples from LGMD2C patients and healthy controls to test for cell apoptosis. No positive staining was detected in any control individuals while it was commonly found in the patient muscle. This indicates that a result of SGCG disruption is increased cellular apoptosis likely contributing to the myofiber degeration and muscle atrophy seen commonly in LGMD patients.

FAVariant: NM_000231.2(SGCG):c.525del (p.Phe175fs)

ClinVarID: 189243 https://www.ncbi.nlm.nih.gov/clinvar/variation/189243/

PatientCell: CL:0000187 (Muscle Cell)

GeneFunction: Muscle Cell Apoptotic Process (GO:0010657)

GeneAlteration: Samples were collected from deltoid muscle biopsy of control individuals and LGMD2C individuals with the 525delT founder mutation. No further alteration necessary.

FunctionalEvidence: TUNEL staining was perfomed on muscle samples from LGMD2C patients and healthy controls to test for cell apoptosis. No positive staining was detected in any control individuals while it was commonly found in the patient muscle. This indicates that a result of SGCG disruption is increased cellular apoptosis likely contributing to the myofiber degeration and muscle atrophy seen commonly in LGMD patients.

FAVariant: NM_000231.2(SGCG):c.525del (p.Phe175fs)

ClinVarID: 189243 https://www.ncbi.nlm.nih.gov/clinvar/variation/189243/

CaseRoma: France

CasePresentingHPOs: HP:0006785, HP:0003236, (Limb-girdle muscular dystrophy, Elevated serum creatine kinase)

HPOsFreeText: Wheelchair bound before 14 yrs

CaseNotHPOs: N/A

NotHPOsFreeText: N/A

CaseAddInfo: Probands are from consanguineous gypsy families supporting a founder event, This mutation segregated with the disease in 18 patients and all asymptomatic parents were heterozygous, 15 siblings were heterozygous and asymptomatic except for a moderate increase in Serum CK in some

CasePreviousTesting: Duchenne-like clinical presentation, Males and females equally affected, Normal dystrophin and decreased level of α- and γ-SG in muscle specimens

CaseGenotypingMethod: DNA was isolated from peripheral blood leukocytes and subject to PCR amplification for linkage analysis. Total RNA was extracted from muscle biopsies and cDNA synthesis was performed and amplified. This was sequenced and analyzed for mutations.

Variant: NM_000231.2(SGCG):c.848G>A (p.Cys283Tyr)

ClinVar: 2006 https://www.ncbi.nlm.nih.gov/clinvar/variation/2006/

gnomAD: 0.000008796, https://gnomad.broadinstitute.org/variant/13-23898652-G-A

Affected: 18

Unaffected: At least 29

Segregations: N/A

SegregationAddInfo: Candidate Gene Sequencing

CaseRoma: France

CasePresentingHPOs: HP:0006785, HP:0003236, (Limb-girdle muscular dystrophy, Elevated serum creatine kinase)

HPOsFreeText: Wheelchair bound before 14 yrs

CaseNotHPOs: N/A

NotHPOsFreeText: N/A

CaseAddInfo: Probands are from consanguineous gypsy families supporting a founder event, This mutation segregated with the disease in 18 patients and all asymptomatic parents were heterozygous, 15 siblings were heterozygous and asymptomatic except for a moderate increase in Serum CK in some

CasePreviousTesting: Duchenne-like clinical presentation, Males and females equally affected, Normal dystrophin and decreased level of α- and γ-SG in muscle specimens

CaseGenotypingMethod: DNA was isolated from peripheral blood leukocytes and subject to PCR amplification for linkage analysis. Total RNA was extracted from muscle biopsies and cDNA synthesis was performed and amplified. This was sequenced and analyzed for mutations.

Variant: NM_000231.2(SGCG):c.848G>A (p.Cys283Tyr)

ClinVar: 2006 https://www.ncbi.nlm.nih.gov/clinvar/variation/2006/

gnomAD: 0.000008796, https://gnomad.broadinstitute.org/variant/13-23898652-G-A

Affected: 18

Unaffected: At least 29

Segregations: N/A

SegregationAddInfo: Candidate Gene Sequencing