Banker BQ, Engel AG (1994) Basic Reactions of Muscle, In: Myology, 2nd Edit., Vol. 1, AG Engel, C
Franzini-Armstrong, Eds., McGraw Hill, New York, pp832-888.
Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, et al. (2010) MTM1 mutation associated
with X-linked myotubular myopathy in Labrador Retrievers. Proceedings of the National Academy
of Sciences of the USA, 107, 14697-14702.
Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, et al. (2009) “Necklace” fibers, a
new histological marker of late-onset MTM1-related centronuclear myopathy. Acta
Neuropathologica, 117, 283-291.
Böhm J, Vasli N, Maurer M, Cowling B, Shelton GD, et al. (2013) Altered splicing of the BIN1
muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. PLOS
genetics, 9, e1003430.
Cooper BJ, de Lahunt A, Gallagher EA, Valentine BA (1986) Nemaline myopathy of cats. Muscle
and Nerve, 9, 618-625.
Cosford KL, Taylor SM, Thompson TL, Shelton GD (2008) A possible new inherited myopathy in a
young Labrador retriever. Canadian Veterinary Journal, 49, 393-397.
Delauche AJ, Cuddon PA, Podell M, Devoe K, Powell HC, Shelton GD (1998) Nemaline rods in
canine myopathies: 4 case reports and literature review. Journal of Veterinary Internal Medicine, 12,
424-430.
Eminaga S, Cherubini GB, Shelton GD (2012) Centronuclear myopathy in a Border collie dog.
Journal of Small Animal Practice, 53,608-612.
Fardeau M, Tomé F (1994) Congenital myopathies. In: Myology, 2nd Edit., Vol. 2, AG Engel, C
Franzini-Armstrong, Eds., McGraw Hill, New York, pp1487-1532.
Goryunov D, Nightingale A, Bornfleth L, Leung C, Liem RKH (2008) Multiple desease-linked
myotubularian mutations cause NFL assembly defects in cultured cells and disrupt myotubularin
dimerization. Journal of Neurochemistry, 104, 1536-1552.
Jungbluth H, Wallgren-Pettersson C, Laporte J (2008) Centronuclear (myotubular) myopathy.
Orphanet Journal of Rare Diseases, 3, 26. doi: 10.1186/1750-1172-3-26.
Hafner A, Dahme E, Obermaier G, Schmidt P, Doll K, Schmahl W (1996) Congenital myopathy in
Braunvieh × Brown Swiss calves. Journal of Comparative Pathology, 115, 23-34.
240
241
242
243
244
245
246
247
248
249
250
251
252
253
254
255
256
257
258
259
260
261
262
263
Kube SA, Vernau KM, LeCouteur RA, Mizisin AP, Shelton GD (2006) Congenital myopathy with
abundant nemaline rods in a cat. Neuromuscular Disorders, 16, 188-191.
Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, et al. (1996) A gene mutated in X-linked
myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.
Nature Genetics, 13, 2, 175-182.
Malfatti E, Romero NB (2016) Nemaline myopathies: State of the art. Revue Neurologique, 172,
614-619.
Nakamura RK, Russell NJ, Shelton GD (2012) Adult-onset nemaline myopathy in a dog presenting
with persistent atrial standstill and primary hypothyroidism. Journal of Small Animal Practice,
53.357-360. .
North K (2008) What’s new in congenital myopathies? Neuromuscular Disorders, 18, 433-442.
Nowak KJ, Ravenscroft G, Laing NG (2013) Skeletal muscle α-actin diseases (actinopathies):
pathology and mechanisms. Acta Neuropathologica, 125,19-32.
Pelé M, Tiret L, Kessler JL, Blot S, Panthier JJ (2005) SINE exonic insertion in the PTPLA gene
leads to multiple splicing defects and segregates with the autosomal recessive centronuclear
myopathy in dogs. Human Molecular Genetics, 14, 1417-1427.
Polle F, Andrews FM, Gillon T, Eades SC, McConnico RS, et al. (2014) Suspected congenital
centronuclear myopathy in an Arabian-cross foal. Journal of Internal Medicine, 28, 1886-1891.
Romero NB (2010) Centronuclear myopathy: a widening concept. Neuromuscular Disorders, 20,
223-338.
Sewry CA, Wallgren-Pettersson C (2017) Myopathology in congenital myopathies. Neuropathology
and Applied Neurobiology, 43, 5-23.
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265
266
267
268
269
270
271
272
273
274
275
276
277
278
279
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Figure legends
Fig. 1. Cryostat section of M. vastus medialis. The muscle fibers of the transverse section reveal
varying in size and round shape with internal nuclei. Endomysial connective tissue and number of
satellite nuclei are increased. HE.
Fig. 2. Cryostat section of M. vastus medialis. The muscle fibers of the longitudinal section
show nuclear chains in the mid-portion of the fiber. Increased numbers of satellite nuclei are also
visible. HE.
Fig. 3.
M. longissimus lumborum stained with Gomori’s trichrome shows variable numbers of
nemaline rods. Gomori’s trichrome staining.
Fig. 4. The longitudinal section of M. longissimus lumborum reveals the nemaline rods arise from
the Z disk (arrows). Numerous nemaline rods are observed in the center of fibers, associated with
or formed myofibrillar degeneration. Bar: 10μm.
Fig. 1
Fig. 3
Fig. 2
Fig. 4
Supplementary data-1
fig. 1
fig. 2
fig. 3
fig. 4
fig. 1. Gross features of the muscles of the hind legs. M. vastus medialis reveals pale (arrows), while
the semimembranosus muscle (arrow heads) shows relatively normal color.
fig. 2. Cryostat section of M. semimembranosus from control animal. Normal cytoplasmic staining is
pale green, and nuclei and sites of high mitochondrial density stain red. Modified Gomori’s trichrome.
fig. 3. Cryostat section of M. semimembranosus from control animal. NADH-TR staining shows a
ranom distribution of the fibers with high and low activity depend on the presence of oxidative
activity.
fig. 4. Cryostat section demonstrates mild lesion and varying fiber size with internal nuclei in M.
semimembranosus. HE.
Supplementary data-2
fig. 5
fig. 6
fig. 5. Cryostat section of M. vastus medialis shows severe lesion associated with fat tissue
infiltration. HE.
fig. 6. Staining for NADH-TR reveals fibers with sarcoplasmic strands radiating from the central
nucleus (arrows) and increased reactivity showing ring-like appearance (arrow heads). NADH-TR.
Supplementary data-3
fig. 7a
fig. 7b
fig. 8
fig. 7a, b. The diaphragmatic muscles are consisted of small rounded or polygonal fibers with
several internal nuclei (a). NADH-TR staining reveals the fibers with a dark central region
surrounded by pale peripheral halo (b). a: HE, b: NADH-TR.
fig. 8. M. longissimus lumborum shows variable numbers of nemaline rods revealed strong
immunoreactivity with α–actinin antibody. IHC.
Supplementary data-4
fig. 9
fig. 10
fig.9. The immature fiber of the diaphragmatic muscles shows the centrally placed nuclei
surrounded by glycogen granules, and a reduction in myofibrils. Inset shows the organelles
probably originating from the mitochondria. Bar: 10μm.
fig.10. Rnig-like or necklace-like fiber of M. vastus medialis reveals the center bordered by an
area devoid of myofibrils and containing glycogen granules and dilated sarcoplasmic reticulum.
Peripheral area shows a zone with lack of myofibrils. Inset shows dilated sarcoplasmic
reticulum. Bar: 10μm.
...