Table 5 Rimmed vacuoles in muscle biopsies: selected differential diagnosis

ANO5

Anoctaminopathy or limb girdle muscular dystrophy type R12, LGMD-R12 (in the old classification LGMD2L) (Hicks et al., 2011, Straub et al., 2018)

CRYAB

Alpha-beta-crystallinopathy distal myopathy or alpha-beta-crystallinopathy myofibrillar myopathy (Udd 2012)

DMD

Dystrophinopathy type Becker muscular dystrophy (de Visser et al., 1990)

DNAJB6

Limb girdle muscular dystrophy type D1 (LGMD1D, in the old classification LGMD1D) (Hackman et al., 2011, Harms et al., 2012, Straub et al., 2018)

DUX4

Facioscapulohumeral muscular dystrophy (FSHD) (Reilich et al., 2010)

DUX4/ SMCHD1

Facioscapulohumeral muscular dystrophy (FSHD) (Reilich et al., 2010)

EMD

X-linked Emery-Dreifuss muscular dystrophy (Paradas et al., 2005)

FHL1

Reducing body myopathy (Waddell et al., 2011)

FKRP

Fukutin-related proteinopathy or limb girdle muscular dystrophy type R9, LGMD-R9 (in the old classification LGMD2I) (Yamamoto et al., 2008, Straub et al., 2018)

GNE

Hereditary inclusion body myopathy (hIBM) or Nonaka distal myopathy or GNE myopathy (Nishino et al., 2015)

LAMA2

Merosinopathy or merosin deficient congenital muscular dystrophy (Rajakulendran et al., 2011)

LDB3/ ZASP

Markesbery-Griggs distal myopathy (ZASP myofibrillar myopathy) (Udd 2012)

LMNA

Laminopathy or Emery-Dreifuss muscular dystrophy (Fang et al., 1997)

MATR3

Vocal cord and pharyngeal weakness with distal myopathy (“VCPDM”) (Palmio et al., 2016)

MYHC-IIA

Type 3 hereditary inclusion body myopathy (hIBM3)(Narayanaswami et al., 2014)

MYH2

Myosinopathy (subtype) (Oldfors 2007)

MYH7

Laing distal myopathy (myosinopathy subtype) (Lefter et al., 2015)

MYOT

Myotilin distal myopathy or myotilin myofibrillar myopathy (Udd 2012)

MYOT

Myotilinopathy (Pénisson-Besnier et al., 2006)

PABPN1

Oculopharyngeal muscular dystrophy (Engel and Franzini-Armstrong, 2004)

PNPLA2

PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy (Kaneko and Aoki, 2014)

TCAP

Telethoninopathy or limb girdle muscular dystrophy type R7, LGMD-R7 (in the old classification LGMD2G) (Moreira et al., 1997; Negrão et al., 2010; Cotta et al., 2014a, b, Straub et al., 2018, Cotta et al., 2019)

TIA1

Welander distal myopathy (Udd 2012)

TNPO3

Transportinopathy or limb girdle muscular dystrophy type D2, LGMD-D2 (in the old classification LGMD1F) (Gamez et al., 2001, Straub et al., 2018)

TTN

Udd distal myopathy (titinopathy) (titin gene, allelic to Limb Girdle Muscular Dystrophy R10, LGMD-R10, in the old classification LGMD2J) (Udd 2012, Straub et al., 2018)

VCP

Hereditary inclusion body myopathy with Paget’s disease of bone and frontotemporal dementia “IBMPFD” (Narayanaswami et al., 2014)

na

Sporadic inclusion body myositis (sIBM) (Greenberg 2019)

na

Dermatomyositis (Layzer et al., 2009)