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Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study  Gulcin Akinci, Haluk Topaloglu, Tevfik Demir, Ayca.

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Presentation on theme: "Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study  Gulcin Akinci, Haluk Topaloglu, Tevfik Demir, Ayca."— Presentation transcript:

1 Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study 
Gulcin Akinci, Haluk Topaloglu, Tevfik Demir, Ayca Ersen Danyeli, Beril Talim, Fatma Ela Keskin, Pinar Kadioglu, Enez Talip, Canan Altay, Guzin Fidan Yaylali, Habib Bilen, Banu Nur, Leyla Demir, Huseyin Onay, Baris Akinci  Neuromuscular Disorders  Volume 27, Issue 10, Pages (October 2017) DOI: /j.nmd Copyright © 2017 Elsevier B.V. Terms and Conditions

2 Fig. 1 (a) Tight Achilles and ankle equinus deformity in a patient with CGL4. (b) “Mounding” and percussion induced rapid contractions in response to taps at the deltoid, biceps and forearm muscles with reflex hammer in a patient with CGL4. (c) Skeletal muscle biopsy showing variation in fiber size, atrophic fibers, increase in endomysial connective tissue and a fiber with internal nucleus (H&E, original magnification ×40) in a patient with CGL4. (d) Increased lipid accumulation is shown as large lipid droplets in a patient with FPLD2 (Oil Red O staining, original magnification ×40). Neuromuscular Disorders  , DOI: ( /j.nmd ) Copyright © 2017 Elsevier B.V. Terms and Conditions

3 Fig. 2 Upper limb MRI showing muscle hypertrophy and marked loss of subcutaneous fat in two patients with CGL4. Neuromuscular Disorders  , DOI: ( /j.nmd ) Copyright © 2017 Elsevier B.V. Terms and Conditions


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