---

MRI Patterns of Neuromuscular Disease Involvement
  Thigh & Other Muscles ²

MRI Patterns: Hereditary αB-Crystallin ACADVL Acid Maltase ANO5 Becker BVES (POPDC1) Calpain-3 CASQ1 Caveolin-3 CMT 1A Collagen VI Collagen XII Desmin DNM2 DNAJB6 DOMS DPM3 Duchenne Dysferlin Emerin FAM111B FHL1     Filamin FKRP FSH GMPPB GNE GYG1 HNRNPDL Lamin A/C Laminin α2 MPD2 MYH2 MYH7 Myotilin Myotonic Dystrophy   1: DMPK   2: ZNF9 Normal OPMD PEO Plectin PNPLA2 (Lipid) POGLUT1     POLG POMT1 Rod   ACTA1   ADSSL1   LMOD3 RYR1: Central Core Sarcoglycans SECISBP2 SEPN1 Spinal Muscular Atrophy   BSMA: AR   Crural amyotrophy   SMA 5q: SMN1   SMA-LED: DYNC1H1   SMALED2: BICD2 TCAP Titin: HMERF TMEM8C: CFZ TNPO3 TRIM32 VCP: IBMPFD ZASP

MRI Patterns: Acquired   MRI Patterns: General Age BCIM Bent spine CIDP, Sensory Cryptococcus Enterovirus IM HMGCR IMPP IBM (IM-VAMP) Nephrogenic fibrosis Orbital Myositis Pyomyositis Radiculopathy, L5 RIIM SLONM SRP Venous thrombosis   Muscle MRI     Sequences & Patterns     Asymmetric   Myopathy     Hereditary     Acquired     Connective tissue   Neurogenic Diffuse pattern:   No Differential Thigh Δ   Rod-related genes     ACTA1     Nebulin     TPM3   Legend   White = Muscle: Involved Early   Gray = Muscle: Moderately Involved   A Longus: Adductor Longus   RF: Rectus Femoris   SM: Semimembranosus   ST: Semitendinosus   VI: Vastus Intermedius   VL: Vastus Lateralis   VM: Vastus Medialis

---

Myopathies, Hereditary

---

MRI: General Patterns of LGMD ¹⁰

Gluteus Minimus > Other Glutei

• Calpain-3: Soleus & Medial gastrocnemius involved; Anterior leg spared
• Dysferlin: Posterior leg & thigh involved
• GNE: Vastus lateralis spared

Gluteus Maximus > Other Glutei & More Distal LE

• FKRP
• DNAJB6: Rectus femoris spared
• POMT1
• TNPO3: Sartorius & Posterior leg (Diffuse) involved

Glutei: Difusely involved

• Sarcoglycans: Vastus medialis involved; Lower legs spared
• Dystrophin
• Gracilis involved
  • TCAP: Rectus femoris & Posterior tibial involved
  • TRIM32: Posterior leg, diffuse

Glutei: Not involved

• HNRNPDL: Anterior thigh involved, except Rectus femoris
• ANO5: Vasti patchy; Short head of biceps spared
• GMPPB: Posterior tibial involved

---

Dystrophinopathies: DMD & BMD

Dystrophinopathies: Muscle Involvement Arms 4   Common     Proximal: Periscapular (Involved early, with normal function)     Triceps; Biceps; Teres major     Distal arm: Supinator; Pronator   Uncommon: Deltoid; Pectoralis; Hand & finger extensors Trunk  Paraspinal > Abdominal Pelvis   Common: Gluteus maximus & medius   Uncommon: Obturator internus & externus Thighs   Common: Most anterior & Posterior compartment   Early: Adductor magnus   Uncommon: Sartorius, Gracilis, Adductor longus       Semimembranosus Legs   Common: Gastrocnemius, Soleus, Peroneus   Uncommon: Tibialis posterior Distinguishing feature   Soleus & Obturator externus:     Less involved than in Dysferlinopathy Female carriers, Symptomatic   MRI with Asymmetry

Duchenne MD   Early involvement of Adductors

From: Bhavesh Trikamji

---

LGMD 2A 5 General: Similar to FKRP   Distinguishing feature     Obturator externus & internus less involved than FKRP Upper body   Common: Latissimus dorsi, Serratus anterior, Subscapularis   Uncommon: Arm abductors Trunk & Pelvis   Common: Paraspinous (Extensor); Gluteus medius & minimus   Uncommon: Abdominal; Psoas Thighs   Common: Adductors & Semimembranosus > Gracilis; Vasti   Uncommon: Sartorius; Gracilis; Anterior; Vastus lateralis Legs   Common: Gastrocnemius, medial; Soleus   Uncommon: Posterior tibial Severe disease: Anterior thigh; Central muscle spared     Null mutations Asymmetry: Some patients

LGMD 2I General: Similar to CAPN3   Distinguishing feature     Obturator externus & internus more involved than CAPN3 Pelvis   Common: Glutei (Maximus)   Uncommon: Psoas; Iliacus Thigh   Common: Posterior; Vastus intermedius   Uncommon: Sartorius; Gracilis Legs   Common: Gastrocnemius > Soleus

---

LGMD 2B General: Similar to LGMD 2L (ANO5)   Distinguishing features     Adductor magnus less involved than ANO5     Anterior tibial more involved than ANO5     Soleus & Obturator externus:       More involved than Dystrophinopathy Arms   Forearm flexors Pelvis   Common: Gluteus minimus   Uncommon: Psoas Thighs   General: STIR hyperintense early   Common: Adductors; Vasti; Semimembranosus   Uncommon: Biceps, short head; Sartorius; Gracilis Legs   Common: STIR hyperintense; Gastrocnemius, medial   Uncommon: Posterior tibial Also see: Dysferlinopathy Muscle Image

Thigh From: F Fatehi Leg

---

LGMD 2C-2F General: Similar patterns 3 Distinguishing feature from other MDs   No fat replacement in distal limb muscles Pelvis   Common & Early: Glutei (Maximus, Medius & Minimus) Thigh   Common: Adductor magnus (Early)     Quadriceps: Proximal > Distal   Uncommon: Sartorius & Gracilis; Vastus lateralis, distal     Tensor fasciae latae   Hypertrophy: Sartorius & Gracilis Legs: Spared until late   Uncommon: Tibialis posterior; Flexor digitorum longus

---

LGMD 2Q (LGMD R17) Trunk   Paravertebral, lumbar Thigh   Adductors, Semimembranosus, Semitendinosus, Biceps femoris Legs   Anterior   Soleus

From: Sergey Bardakov Young Adult Child, 4 years From: Sergey Bardakov

---

LGMD 1F Scapular girdle: Teres major >     Pectoral, Infraspinatus, Serratus anterior, Deltoid Lumbar: Paraspinal > Abdominal oblique, Rectus abdominus Trunk: Gluteus maximus Thigh: Sartorius; Vastus lateralis > Vasti, Biceps, Semitendinosus Lower leg: Peroneal & Gastrocnemius > Soleus, Anterior Tibial

Carey-Fineman-Ziter Thigh Adductor magnus; Sartorius Trunk Paraspinous; Gluteus maximus

---

Multisystem Selenoprotein Deficiency Trunk  Common: Paraspinous Pelvis  Uncommon: Psoas Thigh  Common: Adductors; Sartorius

SEPN1 myopathy: Common involvement Head  Temporal; Masseter; Lateral pterygoid Neck  SCM; Neck extensors; Levator scapulae Trunk  Paraspinous; Pectoralis major; Abdominal; Glutei Pelvis  Psoas; Iliac Thigh  Semimembranosus; Sartorius > Adductor magnus Leg  Gastrocnemius, medial

---

Myopathy with Satellite cell loss Thigh Common: Internal muscle areas (Also MYH7 Child, Axial) Leg Common: Gastrocnemius, Lateral; Soleus; Posterior Tibial Inside → Out pathology, Other: JAG2

Myopathy Trunk: Gluteus maximus; Adductor magnus; Obturator Thigh: Hamstrings; Adductor; Rectus femoris Leg: Anterior tibial; Medial gastrocnemius

---

External link

LGMD 2L (LGMD R12) General   Asymmetric   Similar to LGMD 2B (Dysferlin)   Distinguishing features     Adductor magnus more involved than Dysferlin     Anterior tibial less involved than Dysferlin   STIR hyperintensity early: Medial gastrocnemius most common Pelvis   Uncommon: Glutei; Psoas; Illiacus Thigh   Common: Adductors; Semitendinosus; Vasti (Asymmetric)   Uncommon: Sartorius; Gracilis; Biceps femoris Legs   Common: Gastrocnemius, medial   Spared: Tibial, posterior

---

Myopathy with Cardiac Arhythmisa (LGMD R25) Thigh Common: Biceps, long head; Adductor magnus       Spared: Rectus femoris Leg Common: Gastrocnemius; Soleus

---

CMD (MDC1A)/LGMD R23: Laminin-α2 Deficiency Thigh Common:   Posterior predominant   Adductor magnus; Biceps Trunk Common: Gluteus Arms Mild: Deltoid; Biceps General Some with peripheral predominant pathology

---

Oculopharyngeal MD 11 Bulbar  Tongue (Presymptomatic) Trunk  Serratus anterior; Cervical paraspinous Pelvis  Common: Gluteus minimus & medius; Psoas Thighs  Common: Posterior; Adductor magnus Legs  Common: Soleus > Gastrocnemius; Peroneus General  Thigh > Leg OPMD vs OPDM OPMD more: Adductor magnus; Gluteus medius & minimus OPDM   More  Tibialis anterior; Extensor digitorum longus; Gastroc, medial   Early  Soleus; Gastrocnemius, medial   Spared  Gracilis; Rectus femoris, Tibialis anterior   Types  Similar anatomic patterns of involvement

---

LGMD 1B; EDMD2 Trunk   Common: Paraspinal (Multifidus & Longissimus)   Uncommon: Abdominal Pelvis   Common: Gluteus minimus & medius   Uncommon: Psoas Thigh   Common: Posterior; Adductor major   Uncommon: Sartorius; Gracillis   Hypertrophic: Rectus femoris Leg   Common & Early: Gastrocnemius, medial   Often: Gastrocnemius, lateral; Soleus   Uncommon: Anterolateral, less than EDMD1

EDMD1 Trunk Paravertebral, Glutei Thigh Quadriceps, Semitendinosus, Semimembranosus,     Biceps femoris, Adductor magnus Leg Soleus, Gastrocnemius, Peronei

---

	From: F Fatehi
Neutral Lipid Storage (PNPLA2) General involvement Legs & Trunk > Thigh; Asymmetric Arms Infraspinatus; Biceps   Hypertrophy: Sternocleidomastoid; Triceps brachii; Pectoralis minor & major Trunk Gluteus minimus Thigh Posterior; Semimembranosus & Biceps (Long head) early   Hypertrophy: Sartorius; Gracilis Leg Soleus; Gastrocnemius, medial; Posterior tibial
Thigh From: F Fatehi   Ser185Pro	Arm From: F Fatehi

---

VLCAD Deficiency Asymmetric Thigh   Common: Adductor magnus; Vasti   Spared: Semitendinous, Sartorius, Gracilis, Rectus femoris Leg  Common: Gastrocnemius (Medial)

Thigh Leg From: F Fatehi

---

LGMD 1A; MFM5; MYH7 Trunk   Common: Rhomboid; Erector spinae Pelvis   Common: Gluteus medius & minimus Thigh   Common: Adductors; Semimembranosus; Biceps   Uncommon: Rectus femoris; Semitendinosus; Sartorius; Gracilis Legs   Common: Soleus; Gastrocnemius, medial; Anterior tibial   Uncommon: Peronei, Posterior tibial

MYH7 variant: Myopathy, Childhood, Axial Axial: Tongue; Neck & Thoracic extensors; Sternomastoid Arm: Posterior relatively spared Hip: Gluteus minimus; Tensor fascia lateae Thigh   Common: Internal muscle regions (Also POGLUT1)     Adductors; Sartorius; Gracilis; Biceps long head Leg: Soleus; Tibialis anterior; Extensor digitorum longus

---

LGMD 1D Trunk   Common: Gluteus maximus Thigh   Common: Adductor major, Semimembranosus, Biceps Leg   Common: Soleus   Spared: Anterior muscles

LGMD 1E; MFM2 Pelvis   Common Gluteus maximus; Psoas Thigh   Common: Semitendinosus, Gracilis, Sartorius   Uncommon: Anterior Legs   Common: Peronei; Posterior atrophy

---

FHL1: Reducing Body Myopathy Trunk  Common: Paraspinous Pelvis  Hypertrophy: Glutei Thigh  Common: Posteromedial     Semimembranosus, Biceps femoris, Adductor; Gracilis Leg  Common: Soleus; Asymmetry	ZASP Distal myopathy Thigh   Common: Semimembranosus; Biceps; Adductors   Uncommon: Semitendinosus; Gracilis; Sartorius Leg  Common: Soleus; Gastrocnemius, medial

---

From: Leo Wang Facioscapulohumeral (FSH) MD General: Asymmetric Arms   Common: Trapezius; Serratus anterior; Teres major     Latissimus dorsi; Pectoralis major; Rhomboid   Uncommon: Supraspinatus; Infraspinatus; Subscapularis Trunk   Abdominal + Paraspinal Thighs  Common: Posterior; Vasti Legs  Common: Tibialis anterior; Soleus; Medial gastrocnemius

---

General   Common: Inhomogenous, patchy distribution     Pockets of fat Pelvis, Thighs & Legs: Common involvement

From: Jorge A Bevilacqua, FONDECYT Grant #1151383

---

LGMD 2T Trunk   Common: Paraspinous Thigh   Common: Posterior muscles Leg   Common: Tibial, anterior; Soleus

LGMD R11 Trunk   Common: Gluteus (Maximus) Thigh   Common: Adductor magnus; Semimembranosus, Semitendinosus Leg   Spared: Tibial, anterior & posterir

---

Trunk Common: Gluteus (Maximus, Medius, Minimus) Thigh Common: Biceps, Semimembranosus, Semitendinosus Legs Common: Anterior tibial; Gastrocnemious; Soleus

LGMD R7 Trunk   Common: Gluteus (Maximus, Medius, Minimus) Thigh   Common: Vast I & M; RF; Adductors; Posterior muscles Leg   Common: Gastrocnemius

---

Thigh   Common: Vasti, Sartorius, Adductor magnus   Spared: Rectus femoris; Adductor longus Legs: Later in course   Anterior tibial; Extensor hallucis; Soleus

From: A Berardo

---

VMCQA Pelvis  Common: Gluteus maximus Thighs  Common: Semitendinosus; Vastus lateral (Dist); Anterior Legs  Common: Gastrocnemius Arms: Mild involvement Asymmetry

Myopathy + Ophthalmoplegia Thighs Common: Gracilis; Vastus lateralis; Semitendinosus

POIKTMP Thighs Common: Vastus lateralis (Early); Anterior (Late) Legs  Common: Posterior External link

Titin Myopathy with Respiratory Failure (HMERF)   Pelvis  Common: Illiacus; Psoas; Obturator   Thigh  Common: Semitendinosus > Sartorius & Gracillis Finnish distal myopathy   Thigh  Common: Normal   Leg  Common: Tibialis anterior

---

LGMD 1C Leg: Gastrocnemius, medial

MPD2: Matrin-3 General: Asymmetric Trunk  Common: Paraspinal Thigh  Common: Semimembranosus; Sartorius Leg  Common: Soleus; Gastrocnemius, medial

---

Rod myopathy, Dominant (de novo): ACTA1 (Thr204Ile) 6 Bulbar  Tongue Neck  Common: Sternocleidomastoid (SCM) Trunk  Common: Abdominal; Thoracic Thigh  Common: Sartorius > Adductors Leg  Common: Anterior tibial; EHL; EDL

Rod myopathy, Dominant: ACTA1 (Gly50Ser) Neck  Common: Sternocleidomastoid (SCM) Trunk  Common: Rectus abdominis; Gluteus minimus Thigh  Common: Vastus intermedius & lateralis Leg  Common: Gastrocnemius, Medial & Lateral

---

Rod, Distal myopathy: ADSSL1 Head: Tongue & Masseter Trunk: Neck & Upper thoracic Lower extremity   Posterior > Anterior   Thigh     Common: Vastus lateral (Periphery), Adductor, Biceps femoris     Uncommon: Rectus femoris; Sartorius; Semitendinous   Legs: Soleus & Gastrocnemius (Periphery)

Rod myopathy: NEM10 Thigh   Common: Sartorius

---

GNE myopathy General  Common: T2 hyperintensity Pelvis  Common: Gluteus minimus Thigh   Common: Medial; Posterior   Uncommon: Vastus lateralis Legs   Common: Anterior tibial; Toe extensors;     Soleus; Gastrocnemius, medial

From: F Fatehi

---

Acid maltase deficiency, Adult onset Distinguishing feature from most MDs   No fat replacement in distal limb muscles Cranial nerves  Common: Tongue Upper extremity: Subscapular Trunk  Common: Paravertebral; Abdominal Pelvis  Common: Glutei Thigh  Common: Adductors Legs  Uncommon: Gastrocnemius; All

X-linked Myopathy with Excessive Autophagy (XMEA) Upper extremity: Subscapular; Biceps Pelvis  Common: Glutei Thigh  Common: Vasti; Adductor magnus     Hypertrophy: Rectus; Semimembranosus Legs  Common: Soleus

---

Head   Common: Masticatory Arms   Common: Biceps brachialis Thigh   Anterior > Posterior   Common: Vasti, Adductor magnus   Uncommon: Rectus, Adductor longus, Biceps femoris Leg   Varied involvement of all compartments   Common: Gastrocnemius; Soleus; Peronei   Uncommon: Tibialis anterior Recessive disease   More diffuse involvement

Centronuclear myopathy (CNM1) Trunk   Paraspinous Thigh   Common: Posterior; Adductor; Biceps; Semimembranosus   Uncommon: Sartorius, Gracilis; Rectus femoris Leg   Common: Lateral soleus, Gastrocnemius

---

Ullrich & Bethlem myopathies General: Signal at muscle periphery; Tigroid pattern   Common: Vasti, medial & lateral; Gastrocnemius, medial Trunk  Common: Paravertebral Arms  Common: Triceps; Subscapularis Thigh  Common: Rectus femoris; Vasti Legs  Diffuse; Rim between Soleus & Gastrocnemius Sub-Fascial myopathies, Other: VWA1; MAMDC2; IMPP

---

Myotonic Dystrophy, Type I Arms  Common: Forearm flexors & extensors; Triceps Trunk   Abdominal + Paraspinal Thigh  Common: Vastus intermedius; Anterior > Posterior Leg   Common: Peronei   Uncommon: Posterior tibial

Myotonic Dystrophy, Type 2 Younger patients: MRI often normal Trunk   Common: Erector spinae; Rectus abdominus; External oblique Thigh  Common: Vasti; Hamstring, Internal; Anterior > Posterior Leg  Common: Gastrocnemius, Medial

---

---

Myopathies, Acquired ⁷

---

From: Chris Weihl General: Asymmetry Arms  Common: Flexor digitorum profundus Thigh  Common: Anterior; Sartorius, distal     Relatively spared: Rectus femoris     More involved: Distal parts of muscles Leg Common: All muscles;   Gastrocnemius, Medial

---

Thigh 9   Fat infiltration (T1): Adductor magnus; Hamstrings   Edema (Short tau inversion recovery):     Vastus lateralis; Rectus femoris

Arms Biceps > Triceps Trunk Paraspinous, Glutei Thigh  Common: Adductors, Hamstrings; Quadriceps, varied Leg Medial gastrocnemius variably involved STIR signal:

---

Connective Tissue: Abnormal signal

Immune Myopathy with Perimysial Pathology   Connective tissue involvement     Subcutaneous tissue     Between fascicles   Muscle: Patchy involvement

---

SLONM General: Asymmetry Trunk: Gluteus Medius & Minimus Thigh: Semimembranosus; Biceps Leg: Soleus

---

Enterovirus Inflammatory Myopathy (EVIM)

---

Neurogenic Disorders

---

SMA 5q, Type III - IV SMN1 0 copies; SMN2 4 copies T1 images     From: F Fatehi

---

SMA-LED Thigh   Common: Sartorius

SMALED2 Thigh   Common: Sartorius; Vastus lateralis Leg   Common: Lateral gastrocnemius

---

SBMA 8 Thigh   More severe: Vastus lateralis; Semimembranosus   Less severe: Medial Leg   More severe: Gastrocnemius; Soleus   Less severe: Tibialis anterior & posterior

CMT 1A   Sural nerve: Large   Thigh muscles: Spared   Leg & Foot muscles     Involved: Intrinsic foot, especially lumbricals; Distal leg     Spared: Proximal; Deep posterior

---

Other

---

---

Deep Vein Thrombosis

From: F Fatehi

---

Hemophilia & HIV associated muscle lesion

Myopathy + Fasciitis: Proximal medial right thigh   Adductors + Posterior Medial Vastus   Around superficial femoral neurovascular bundle

---

Lumbar Radiculopathy: L5 (Lumbar stenosis)

---

Unknown
  Lumbar Stenosis & Radiculopathy: Pain
  Serum: Tif1γ & Mi-2β antibodies

Patchy T2 signal: Vastus lateralis > medialis; Fascia

---

With help from: A El-Dokla
Thigh cross-section drawing from: Cunningham's manual of practical anatomy 1914, p194, Fig 73

---

Muscle MRI: Features ¹

---

MRI Sequences & Appearances

	T1	STIR
Water	Dark	Light
Fat	Light	Dark

---

Acute Injury

• High signal: T2 weighted & Inversion–recovery
• Low or Intermediate signal: T1
• Examples: DOMS; Injury; Rhabdomyolysis

Chronic: Fat inflitration

• Fat signal intensity: T1 & T2

---

T2: Low signal intensity

• Calcification
• Fibrosis,
• Hemosiderin
• Gas
• Foreign bodies

---

Diffusion imaging: Signal

• Increased ADC & DWI
  • Muscle disorder
    • Infection
    • Trauma or Strain
    • Myopathy
    • Necrosis
    • Ischemia
  • Nerve
    • Denervation
• Decreased ADC & Increased DWI
  • Neoplasm: Highly cellular
  • Abscess, Intramuscular

ADC = Apparent diffusion coefficient
DWI = Diffusion weighted imaging

---

Perfusion imaging: Signal

• Increased
  • Infection
  • Inflammation
  • Neoplasm: Vascular
• Decreased
  • Ischemia
  • Compartment syndrome

---

Pulse sequences

• T1W: Muscle anatomy
  • Size
  • Fat replacement
  • Hemorrhage: Also Fat Sat T1W
• Post contrast T1W enhancement
  • Rim: Infection; Hematoma; Necrosis
  • Central: Neoplasm
  • Strandy: Muscle strain; Post-treatment
• T2W
  • Muscle anatomy
  • Edema-like signal

---

General patterns

• Gracilis, Sartorius & Posterior tibial not involved: Dystrophin & Sarcoglycans
• Tongue: Acid maltase, OPMD, Mitochondrial, ALS, MuSK MG; Congenital myopathies
• Abdominal: Acid maltase, FSH
• STIR signal: Inflammatory myopathies, FSH, Dysferlin, ANO5, Neurogenic

---

Gracilis muscle involvement

• Desmin: MFM1
• CRYAB: MFM2
• FHL1: Reducing Body Myopathy
• MYH2: Myopathy, Early-onset with Ophthalmoplegia
• MYPN: Rod myopathy
• POLG: Distal myopathy

---

Sartorius involvement

• ACTA1: NEM3
• BICD2: SMALED2
• CRYAB: MFM2
• Desmin: MFM1
• DYNC1H1: SMA-LED
• FHL1: Reducing Body Myopathy
• LMOD3: NEM10
• MATR3: MPD2
• MYPN: Rod myopathy
• POLG: Distal myopathy
• RYR1: Central core
• SECISBP2: Multisystem Selenoprotein Deficiency
• SEPN1: CMD + Spine rigidity
• TK2: MTDPS2
• TMEM8C: Carey-Fineman-Ziter
  
• TNPO3: LGMD 1F

---

Vastus lateralis involvement: Selective

• CASQ: VMCQA
• FAM111B: POIKTMP
• MYH2: MYPOP

---

Semitendinosus involvement

• Innervation
  • Roots: L5 predominant
  • Nerve: Tibial
• Myopathy involvement
  • ANO5: LGMD 2L
  • BAG3: MFM6
  • CASQ1: VMCQA
    
  • CRYAB: MFM2
  • Desmin: MFM1
  • DNAJB4: Respiratory failure & Rigid spine
  • DNM2: Centronuclear myopathy
  • ETFDH: Myopathy
    
  • Titin: HMERF

---

Semimembranosus

• Innervation
  • Roots: L5 predominant
  • Nerve: Tibial
• Myopathy involvement
  • DNAJB6: LGMD 1D
  • CAPN3: LGMD 2A
  • DNM2: Centronuclear myopathy
  • Dysferlin: LGMD 2B
  • ETFDH: Myopathy
    
  • FHL1: Reducing Body Myopathy
  • FSHD: 1; 2
  • MATR3: MPD2
  • Myotilin: LGMD 1A
  • POLG: Distal myopathy
  • SEPN1: CMD + Spine rigidity
  • SLONM
  • ZASP: MFM4

---

Glutei involvement

• Abnormal
  • Dystrophinopathy
    
  • LGMD 2C-2E; 2I
  • Myofibrillar
  • Minimus
    • LGMD 2A; 2B
    • Laminin-α2 Deficiency
    • PNPLA2
    • OPMD
    • GNE
• Hypertrophy
  • FHL1 (Reducing body)

---

Return to Neuromuscular Home Page
Return to Disease patterns

References
1. Eur J Radiol 2016;85:922-935
2. Acta Myologica 2015;34:95-108, Neuropediatrics 2017 Jul 2, Eur Radiol 2018 May 25, Neurology 2020; Feb 6, Eur Radiol 2021 Apr 21
3. JNNP 2017; Online September
4. PLoS One 2018;13:e0199222
5. J Neurol 2020;267:45-56
6. Muscle Nerve 2014;50:1011-6
7. Acta Radiol 2021 Feb 7
8. Neurology 2019;93:e895–907
9. Neuromuscul Disord 2021 Nov 19
10. J Neurol 2023 May 2
11. J Neurol 2023 Aug 27

8/28/2023