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LIMB-GIRDLE MUSCULAR DYSTROPHY (LGMD) SYNDROMES 2

Limb girdle dystrophies: Dominant
  1A: Myotilin; 5q31; Dysarthria
  1B: Lamin A/C; 1q21; + Cardiac
  1C: Caveolin-3; 3p25; Child onset
  1D: DNAJB6; 7q36
  1E: Desmin; 2q35
  1F: TNPO3; 7q32
  1G: HNRPDL; 4q21
  1H: 3p23
  Ankle contractures & High CK
  Bethlem
    COL6A1: 21q22
    COL6A2: 21q22
    COL6A1: 2q37
    COL12A1: 6q13
  Central core: RYR1; 19q13
  Cytoplasmic body: 2q24; 2q21 +...
  Distal myopathies
    MPD2: MATR3; 5q31
  Emery-Dreifuss
    Lamin A/C; 1q21
    SYNE1; 6q25
    SYNE2; 14q23
  Facioscapulohumeral
    1A: DUX4; 4q35
    1B: DUX4; 10qter
    2: SMCHD1; 18p11
  Myofibrillar (Desmin storage)
    MFM1: Desmin; 2q35; AD or AR
    MFM2: CRYAB; 11q22
    MFM3 (LGMD 1A): Myotilin; 5q31
    MFM4: ZASP; 10q23
    MFM5: Filamin C; 7q32
    MFM6: BAG3; 10q25
    Congenital: SEPN1; 1p36
    Other
  Myosin storage: MYH7; 14q11
  Myotonic (DM1): DMPK; 19q13
  Myotonic (DM2): ZNF9; 3q21
  Oculopharyngeal: PABP2; 14q11
Limb girdle dystrophies: Recessive
  2A: Calpain-3 ;15q15
  2B: Dysferlin; 2p13.1
  2C: γ-Sarcoglycan; 13q12
  2D: α-Sarcoglycan; 17q21
  2E: β-Sarcoglycan; 4q12
  2F: δ-Sarcoglycan; 5q33
  2G: Telethonin; 17q12
  2H: TRIM32; 9q33
  2I (MDDGC5): FKRP; 19q13
  2J: Titin; 2q24
  2K (MDDGC1): POMT1; 9q34
  2L: ANO5; 11p14
  2M (MDDGC4): Fukutin; 9q31
  2N (MDDGC2): POMT2; 14q24
  2O (MDDGC3): POMGnT1; 1p32
  2P (MDDGC7): DAG1; 3p21
  2Q: Plectin 1f; 8q24
  2R: Desmin; 2q35
  2S: TRAPPC11; 4q35
  Caveolin-3
  Cerebellar hypoplasia: ISPD; 7p21
  Merosin (Laminin α2)
    Absent: 6q22
    Reduced
    Abnormal: LGMD 2I
  Myosclerosis: COL6A2; 21q22.3
  Myopathy +
    Cardiomyopathy: DPM3; 1q12
    Contractures: TOR1AIP1; 1q25
    Epilepsy: DPM2; 9q34
    Infant stiffness: CRYAB; 11q22
    Lipodystrophy: PTRF; 17q21
    MR & Eye: GMPPB; 3p21
    Ophthalmoplegia: MYH2; 17p13
    Triangular tongue: LIMS2; 2q14

Limb girdle dystrophies: X-linked
  Barth: G4.5 (Tafazzins); Xp28
  Becker: Dystrophin; Xp21
  Duchenne: Dystrophin; Xp21
  Emery-Dreifuss
    Emerin; Xq28
    FHL1: Xq26
  Manifesting carriers
    Dystrophinopathy
    Myotubularin
  McLeod Syndrome: XK; Xp21.1;
  Vacuolar
    Danon's disease: LAMP-2; Xq24
    Excess Autophagy: VMA21; Xq28
    MR & Cardiac: LAMP-2; Xq24

LGMD: General features

Muscle proteins
  Connective tissue
  Dystrophin & associated proteins
  Intermediate filaments
  Neuromuscular junction
  Nuclear envelope
  Structural & Contractile

alpha-Sarcoglycan: LGMD 2D gamma-Sarcoglycan: LGMD 2C delta-Sarcoglycan: LGMD 2F beta-Sarcoglycan: LGMD 2E Dystrophin: Duchenne & Becker MD Laminin-alpha2: Congenital muscular dystrophy Integrin, alpha7: Congenital muscular dystrophy Connective tissue Agrin alpha-Dystroglycan beta-Dystroglycan alpha-Dystrobrevin Syntrophins Sarcospan Filamin 2 Filamin 2 Integrin, beta1 Dystrophy-associated proteins DAG complex +
Other inherited myopathy syndromes
  α-Dystroglycan disorders
  APECED: AIRE; 21q22; Recessive
  Autophagy
    Excessive: VMA21; Xq28
    Multisystem: CLN3; 16p11; Recessive
    Other
  Barnes's myopathy
  Cardiac + Myopathy
    Cardiomyopathy-associated
    Cardiomyopathy (? LGMD1B)
    LGMD 1E: Desmin; 2q35
  Congenital
    Myopathies: Late-onset
    Muscular dystrophies (MDDG)
  Cytoplasmic body myopathies
  Distal myopathies
  Ehlers-Danlos
    TNXB; 6p21
    FKBP14; 7p14
  Familial myasthenia gravis
  FSH dystrophy
    FSHD1: D4Z4 deletion; 4q35
    FSHD2: SMCHD1; 18p11 & 4q35
  Glycogenoses
  Glycosylation
  Hyaline body: MYH7; 14q11
  Inclusion Body (IBM)
    Distal + Resp: TTN; 2q31; Dominant
    IBM1: Desmin; 2q35; Dominant
    IBM2: GNE; 9p12; Recessive
    IBM3: MyHC-IIa; 17p13; Dominant
    IBM4: 7q22; Dominant
    LGMD 1D: DNAJB6; 7q36; Dominant
    IBM + Paget
    HMERF: Titin; 2q24; Dominant
  Lipid
  Mitochondrial
  Myotonic dystrophy
  Ophthalmoplegia: MYH2; 17p13; Recessive
  Other dystrophies
  Protein surplus: CASQ1; 1q23; Dominant
  Reducing body
  Respiratory failure
  Scapuloperoneal syndromes
  Skeletal + Myopathy
    Bone fragility: MTAP; 9p21
    Paget (VCP; HNRNPA2B1; HNRNPA1)
    Dysplasia
      Diaphyseal: TGFB1; 19q13
      Epiphyseal (COL9A3; COL9A2; COMP)
  Spheroid body (Myotilin)
  Tubular aggregates
  Tubular arrays



LGMD: General features

Inheritance
Myopathy: General features
Presenting features
Prevalence
Proteins: Subcellular location
Sarcoglycans
Weakness

From Bramwell:
Atlas of Clinical Medicine


MD: Toe walking

  • Prevalence of recessive muscular dystrophies
  • Dystrophin-associated glycoprotein (DAG; Sarcoglycan) mutations: Typical features


    LGMD 1: Dominant inheritance


    LGMD 1A (Myofibrillar myopathy 3 (MFM3) )
      Myotilin (Titin immunoglobulin domain protein (TTID); MYOT) 19; Chromosome 5q31.2; Dominant or Sporadic

    LGMD 1B 17
      Lamin A/C ; Chromosome 1q21.2; Dominant
    LGMD 1C 27
      Caveolin-3 ; Chromosome 3p25.3; Dominant, Also Recessive

    Caveolin protein
    LGMD 1C
      Clinical
      Genetics
      Laboratory
      Mouse models
    Caveolin-3: Located on
    muscle fiber sarcolemma

    LGMD 1D 82
      DNAJ/HSP40 Homolog, subfamily B, Member 6 (DNAJB6) ; Chromosome 7q36.3; Dominant
    LGMD 1E: Familial Dilated Cardiomyopathy with Conduction Defect & Muscular Dystrophy 81
      Desmin; Chromosome 2q35; Dominant
    LGMD 1F 35
      Transportin 3 (TNPO3) ; Chromosome 7q32.1; Dominant
    LGMD 1G
      Heterogeneous nuclear ribonucleoprotein D-like protein (HNRNPDL; HNRPDL) ; Chromosome 4q21.22; Dominant
    LGMD 1H 77
      Chromosome 3p25.1–p23; Dominant

    LGMD2: Recessive Inheritance


    LGMD 2A
      Calpain-3 (p94 protein) ; Chromosome 15q15.1; Recessive

    Genetics
    Calpain-3 protein
    Clinical
    Laboratory

    From: C Angelini MD


    LGMD 2B
      Dysferlin ; Chromosome 2p13.2; Recessive

    Gene
    Protein
    Clinical
    Laboratory
    Pathology
    Variant syndromes
    Mouse models

    From: C Angelini

    LGMD 2C; Severe Childhood Autosomal Recessive (SCARMD)
      γ Sarcoglycan ; Chromosome 13q12.12; Recessive
    LGMD 2D
      α-Sarcoglycan (Adhalin) ; Chromosome 17q21.33; Recessive

    LGMD 2E
      β-Sarcoglycan ; Chromosome 4q12; Recessive
    LGMD 2F
      δ-Sarcoglycan ; Chromosome 5q33.3; Recessive
    LGMD 2G
      Telethonin (Titin-Cap; TCAP) ; Chromosome 17q12; Recessive
    LGMD 2H: Manitoba Hutterite Dystrophy
      Tripartite-motif containing gene 32 (TRIM32) ; Chromosome 9q33.1; Recessive Sarcotubular myopathy46
      Tripartite-motif containing gene 32 (TRIM32) ; Chromosome 9q31-q33; Recessive
    LGMD 2I (MDDGC5) 18
      Fukutin-related protein gene (FKRP) ; Chromosome 19q13.32; Recessive Myopathy with abnormal merosin (Laminin-2) 4
        Fukutin-related protein gene (FKRP) ; Chromosome 19q13.3; Recessive
    LGMD 2J
        Titin ; Chromosome 2q31.2; Recessive
    LGMD 2K (MDDGC1) : with Mental retardation and Reduced α-dystroglycan45
        POMT1 ; Chromosome 9q34.13; Recessive
    LGMD 2L 67
        Anoctamin 5 (ANO5, TMEM16E, GDD1) ; Chromosome 11p14.3; Recessive
    LGMD 2M (MDDGC4) 59
        Fukutin (FCMD; FKTN) ; Chromosome 9q31.2; Recessive
    Myopathy, Early-onset with Ophthalmoplegia 78
        Myosin, heavy chain 2, skeletal muscle, adult (MYH2) ; Chromosome 17p13.1; Recessive

    Early-onset Myopathy with External ophthalmoplegia 78

      Myosin, heavy chain 2, skeletal muscle, adult (MYH2) ; Chromosome 17p13.1; Recessive
    Myosclerosis 69
        Collagen, type VI, subunit α2 (COL6A2) ; Chromosome 21q22.3; Recessive
    Limb Girdle Dystrophy with Mental Retardation (MDDGC7; LGMD 2P) 79
      Dystrophin-associated glycoprotein 1 (Dystroglycan 1; DAG1) ; Chromosome 3p21; Recessive

    LGMD 2S: Limb Girdle Dystrophy with Movement Disorder & Intellectual Disability 89
      Transport (Trafficking) protein particle complex, Subunit 11 (TRAPPC11) ; Chromosome 4q35.1; Recessive

    Other Dominant Myopathies


    Bethlem myopathy : Several loci
      Collagen, type VI, subunit α1 (COL6A1) ; Chromosome 21q22.3; Dominant
      Collagen, type VI, subunit α2 (COL6A2) ; Chromosome 21q22.3; Dominant or Recessive
      Collagen, type VI, subunit α3 (COL6A3) ; Chromosome 2q37; Dominant

    Bethlem myopathy 90
      Collagen, type XII, subunit α-1 (COL12A1) ; Chromosome 6q13-q14; Dominant

    Multiple epiphyseal dysplasia with mild myopathy (EDM3) 13
      Collagen, type IX, subunit α-3 (COL9A3) ; Chromosome 20q13.3; Dominant
      Collagen, type IX, subunit α-2 (COL9A2) ; Chromosome 1p34.2; Dominant
      Cartilage oligomeric matrix protein (COMP) ; Chromosome 19p13.1; Dominant

    Dominant Myopathy with Bone Fragility 51
      Methylthioadenosine phosphorylase (MTAP) ; Chromosome 9p21.3; Dominant
    Hereditary Inclusion Body Myopathy 4 (HIBM4) 83
      Chromosome 7q22.1-31.1; Dominant
    Dominant Myopathy with Cardiomyopathy 1
      Autosomal dominant
    Dominant myopathy with Ankle contractures & High CK 10
      Autosomal Dominant
    Barnes's Myopathy

    Other Recessive Myopathies



    Familial Limb-Girdle Myasthenia
        Dok-7 (C4ORF25) ; Chromosome 4; Recessive



    Myopathy with Dilated Cardiomyopathy 75
      Dolichyl-phosphate mannosyltransferase 3 (DPM3) ; Chromosome 1q22; Recessive

    Myopathy with Cardiomyopathy & Triangular Tongue 91
      Lim and senescent cell antigen-like domains 2 (LIMS2; PINCH2) ; Chromosome 2q14.3; Recessive

    Myopathy with Contractures
      Torsin A-interacting protein 1 (TOR1AIP1; LAP1B) ; Chromosome 1q25.2; Recessive

    Congenital disorder of glycosylation, Type Iu (CDG1U; DPM2-CDG): Myopathy with Epilepsy & Microcephaly
      Dolichyl-phosphate mannosyltransferase 2 (DPM2) ; Chromosome 9q34.13; Recessive

    Myopathy with Lipodystrophy (Congenital generalized lipodystrophy, Type 4; CGL4) 76
      Polymerase I and transcript release factor (PTRF; Cavin-1; FKSG13) ; Chromosome 17q21.31; Recessive

    Ehlers-Danlos with Myopathy 88
      Tenascin-XB (TNXB) ; Chromosome 6p21.33; Recessive

    LGMD 4
        Autosomal Recessive

    Metabolic myopathies

    Infantile autophagic vacuolar myopathy 56
        Autosomal Recessive

    Childhood autophagic vacuolar myopathy 57
        Autosomal Recessive or X-linked carrier

    Adult-onset autophagic vacuolar myopathy with multiorgan involvement 58
        Sporadic

    Cardiomyopathy, Retinal degeneration & Epilepsy 93
        CLN3 ; Chromosome 16p11.2; Recessive

    X-linked myopathies


    X-linked Myopathy with Excessive Autophagy (MEAX; XMEA) 5, 16
      VMA21 vacuolar H+-ATPase homolog (VMA21; ATP6V0E1; LOC203547) ; Chromosome Xq28; Recessive

    X-linked Vacuolar Cardiomyopathy and Myopathy (Danon's disease)
      Lysosome-associated membrane protein 2 (LAMP-2) ; Chromosome Xq24; Dominant, more severe in males

    Myofibrillar (Desmin -storage) Myopathies 3,11

    Clinical features
    Pathological features
    Hereditary types
      Congenital
        Cap
          TPM2: 9p13
          TPM3: 1q22
          ACTA1: 1q42
        MD: SEPN1; 1p36
        MD + JEB: Plectin; 8q24
        Myopathy: CCDC78; 16p13
      MFM1 (LGMD 1E): Desmin; 2q35
      MFM2: αB-crystallin; 11q22
      MFM3 (LGMD 1A): Myotilin; 5q31
      MFM4: ZASP; 10q23
      MFM5: Filamin C; 7q32
      MFM6: BAG3; 10q25
      Myopathy & Respiratory Δ
        Type 1: Titin; 2q31
        Type 2: 2q21
      Restrictive cardiomyopathy
      Scapuloperoneal MD: FHL-1; Xq26
      Polyglugosan body: RBCK1; 20p13
    Desmin knock-out mouse

    Also see
      Inclusion body myositis
      Intermediate filament disorders

     

    Desmin aggregates



    Myofibrillar myopathies: General


    Myofibrillar myopathies: Specific syndromes



    Myofibrillar myopathy 1 (MFM1)
      Desmin ; Chromosome 2q35; Dominant or Recessive

    Myofibrillar myopathy 2 (MFM2) (Type 1) 39
      αB-crystallin (CRYAB) ; Chromosome 11q23.1; Dominant or Recessive

    Myofibrillar myopathy 4 (MFM4) 44
      ZASP (Lim domain-binding 3 (LDB3)) ; Chromosome 10q23.2; Dominant Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy (ARVD7) 14
      Desmin (DES) ; Chromosome 2q35; Dominant


    Desmin-associated restrictive cardiomyopathy 28
      Autosomal Dominant

    Cardioneuromyopathy with Hyaline masses and Nemaline rods
      Autosomal Recessive

    Desmin myopathy (Type 2)
      Autosomal Dominant

    Congenital muscular dystrophy with Desmin inclusions
      Selenoprotein N, 1 (SEPN1) ; Chromosome 1p36-p35; Recessive

    Myofibrillar myopathy 5 (MFM5) 47
      Filamin C (Filamin 2; FLNC) ; Chromosome 7q32.1; Dominant

    Myofibrillar myopathy 6 (MFM6) 68
      BCL2-associated athanogene 3 (BAG3) ; Chromosome 10q25.2-q26.2; Dominant

    Desmin disorders: Other

    Intermediate filaments & Disorders 20

    General features
    Proteins & Mutations


    CYTOPLASMIC BODY MYOPATHIES (Also see Distal myopathies)

    Severe limb-girdle: ? Recessive
    Mild limb-girdle: Dominant
    Desmin myopathies
    Myopathy + Respiratory weakness
      Type 1: Titin; 2q31; Dominant
      Type 2: 2q21; Dominant
    Distal: Dominant
      Gowers-Laing: MYH7; 14q12
    Plectin deficiency

    Pathology
      Cytoplasmic bodies

    Gomori trichrome

    Phalloidin


    MYOPATHIES WITH TUBULAR AGGREGATES

    General features
    Syndromes
      Proximal myopathy
        TAM1: STIM1; 11p15; Dominant
        TAM2: ORAI1; 12q24; Dominant
      Myasthenic disorders
        Limb Girdle MG 1: GFPT1; 2p13; Recessive
        Limb Girdle MG 2: DPAGT1; 11q23; Recessive
        Slow channel MG: AChR mutations
      Neuromuscular, Other
        Gyrate atrophy: OAT; 10q26; Recessive
        Periodic paralysis
          Hypokalemic
          Andersen
      Occasional: Differential Diagnosis

    Tubular aggregates: General features Tubular aggregates: Proximal myopathy syndromes Tubular aggregates: Other Neuromuscular Disorders Tubular aggregates: Other occasional associations Tubular Aggregates: Mouse models
    Myopathy with Tubular Arrays 48
    Protein Surplus Myopathy 94
    Calsequestrin 1 (CASQ1) ; Chromosome 1q23.2; Dominant

    Congenital Myopathy Syndromes: Late onset or progressive
    Animal models with Myopathy
    Also see: Other Dystrophies


    Return to Myopathy & NMJ Index

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